Started by user koehler Building in workspace /var/lib/jenkins/jobs/hpo.annotations/workspace Cleaning local Directory . Checking out https://github.com/monarch-initiative/hpo-annotation-data/trunk/rare-diseases@HEAD at revision HEAD A README.txt A annotated A annotated/DECIPHER-1.tab A annotated/DECIPHER-14.tab A annotated/DECIPHER-15.tab A annotated/DECIPHER-16.tab A annotated/DECIPHER-17.tab A annotated/DECIPHER-18.tab A annotated/DECIPHER-19.tab A annotated/DECIPHER-2.tab A annotated/DECIPHER-20.tab A annotated/DECIPHER-21.tab A annotated/DECIPHER-29.tab A annotated/DECIPHER-3.tab A annotated/DECIPHER-31.tab A annotated/DECIPHER-32.tab A annotated/DECIPHER-34.tab A annotated/DECIPHER-35.tab A annotated/DECIPHER-37.tab A annotated/DECIPHER-38.tab A annotated/DECIPHER-39.tab A annotated/DECIPHER-4.tab A annotated/DECIPHER-42.tab A annotated/DECIPHER-43.tab A annotated/DECIPHER-44.tab A annotated/DECIPHER-45.tab A annotated/DECIPHER-46.tab A annotated/DECIPHER-47.tab A annotated/DECIPHER-48.tab A annotated/DECIPHER-51.tab A annotated/DECIPHER-52.tab A annotated/DECIPHER-53.tab A 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annotated/OMIM-607426.tab A annotated/OMIM-607432.tab A annotated/OMIM-607450.tab A annotated/OMIM-607453.tab A annotated/OMIM-607454.tab A annotated/OMIM-607458.tab A annotated/OMIM-607459.tab A annotated/OMIM-607473.tab A annotated/OMIM-607475.tab A annotated/OMIM-607476.tab A annotated/OMIM-607482.tab A annotated/OMIM-607483.tab A annotated/OMIM-607485.tab A annotated/OMIM-607487.tab A annotated/OMIM-607488.tab A annotated/OMIM-607498.tab A annotated/OMIM-607499.tab A annotated/OMIM-607501.tab A annotated/OMIM-607508.tab A annotated/OMIM-607516.tab AU annotated/OMIM-607523.tab A annotated/OMIM-607539.tab A annotated/OMIM-607541.tab A annotated/OMIM-607552.tab A annotated/OMIM-607554.tab A annotated/OMIM-607565.tab A annotated/OMIM-607569.tab A annotated/OMIM-607578.tab A annotated/OMIM-607584.tab A annotated/OMIM-607594.tab A annotated/OMIM-607595.tab A annotated/OMIM-607596.tab A annotated/OMIM-607597.tab A annotated/OMIM-607598.tab A annotated/OMIM-607602.tab A 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annotated/OMIM-611225.tab A annotated/OMIM-611228.tab A annotated/OMIM-611252.tab A annotated/OMIM-611263.tab AU annotated/OMIM-611277.tab A annotated/OMIM-611283.tab A annotated/OMIM-611284.tab A annotated/OMIM-611302.tab A annotated/OMIM-611307.tab A annotated/OMIM-611363.tab A annotated/OMIM-611364.tab A annotated/OMIM-611369.tab A annotated/OMIM-611376.tab A annotated/OMIM-611377.tab A annotated/OMIM-611383.tab A annotated/OMIM-611390.tab A annotated/OMIM-611391.tab A annotated/OMIM-611407.tab A annotated/OMIM-611426.tab A annotated/OMIM-611431.tab A annotated/OMIM-611451.tab A annotated/OMIM-611465.tab A annotated/OMIM-611489.tab A annotated/OMIM-611490.tab A annotated/OMIM-611493.tab A annotated/OMIM-611494.tab A annotated/OMIM-611497.tab A annotated/OMIM-611498.tab A annotated/OMIM-611521.tab AU annotated/OMIM-611523.tab A annotated/OMIM-611528.tab AU annotated/OMIM-611543.tab A annotated/OMIM-611544.tab A annotated/OMIM-611548.tab A annotated/OMIM-611553.tab A annotated/OMIM-611554.tab A annotated/OMIM-611556.tab A annotated/OMIM-611560.tab A annotated/OMIM-611561.tab A annotated/OMIM-611571.tab A annotated/OMIM-611572.tab A annotated/OMIM-611584.tab A annotated/OMIM-611588.tab A annotated/OMIM-611590.tab A annotated/OMIM-611597.tab A annotated/OMIM-611603.tab A annotated/OMIM-611615.tab A annotated/OMIM-611630.tab A annotated/OMIM-611631.tab A annotated/OMIM-611634.tab A annotated/OMIM-611637.tab A annotated/OMIM-611638.tab A annotated/OMIM-611694.tab A annotated/OMIM-611702.tab A annotated/OMIM-611705.tab A annotated/OMIM-611706.tab A annotated/OMIM-611717.tab A annotated/OMIM-611718.tab A annotated/OMIM-611719.tab A annotated/OMIM-611721.tab A annotated/OMIM-611722.tab A annotated/OMIM-611726.tab A annotated/OMIM-611755.tab A annotated/OMIM-611762.tab A annotated/OMIM-611771.tab AU annotated/OMIM-611773.tab A annotated/OMIM-611777.tab A annotated/OMIM-611783.tab A annotated/OMIM-611788.tab A annotated/OMIM-611804.tab A annotated/OMIM-611808.tab A annotated/OMIM-611809.tab A annotated/OMIM-611812.tab A annotated/OMIM-611816.tab A annotated/OMIM-611818.tab A annotated/OMIM-611819.tab A annotated/OMIM-611820.tab A annotated/OMIM-611863.tab A annotated/OMIM-611867.tab A annotated/OMIM-611875.tab A annotated/OMIM-611876.tab A annotated/OMIM-611878.tab A annotated/OMIM-611879.tab AU annotated/OMIM-611880.tab A annotated/OMIM-611881.tab A annotated/OMIM-611884.tab A annotated/OMIM-611890.tab A annotated/OMIM-611895.tab A annotated/OMIM-611907.tab A annotated/OMIM-611913.tab A annotated/OMIM-611926.tab A annotated/OMIM-611929.tab A annotated/OMIM-611936.tab AU annotated/OMIM-611938.tab A annotated/OMIM-611943.tab A annotated/OMIM-611944.tab A annotated/OMIM-611945.tab A annotated/OMIM-611953.tab A annotated/OMIM-611961.tab A annotated/OMIM-611962.tab A annotated/OMIM-612001.tab A annotated/OMIM-612004.tab A annotated/OMIM-612015.tab AU annotated/OMIM-612016.tab A annotated/OMIM-612018.tab A annotated/OMIM-612020.tab A annotated/OMIM-612067.tab AU annotated/OMIM-612069.tab A annotated/OMIM-612073.tab AU annotated/OMIM-612075.tab A annotated/OMIM-612076.tab A annotated/OMIM-612079.tab A annotated/OMIM-612089.tab A annotated/OMIM-612095.tab A annotated/OMIM-612096.tab A annotated/OMIM-612097.tab A annotated/OMIM-612098.tab AU annotated/OMIM-612109.tab A annotated/OMIM-612119.tab A annotated/OMIM-612124.tab AU annotated/OMIM-612126.tab A annotated/OMIM-612132.tab A annotated/OMIM-612138.tab A annotated/OMIM-612158.tab A annotated/OMIM-612160.tab A annotated/OMIM-612164.tab AU annotated/OMIM-612165.tab A annotated/OMIM-612198.tab A annotated/OMIM-612199.tab A annotated/OMIM-612201.tab A annotated/OMIM-612219.tab A annotated/OMIM-612225.tab A annotated/OMIM-612227.tab A annotated/OMIM-612229.tab A annotated/OMIM-612233.tab A annotated/OMIM-612237.tab A annotated/OMIM-612240.tab A annotated/OMIM-612242.tab A annotated/OMIM-612244.tab AU annotated/OMIM-612247.tab A annotated/OMIM-612269.tab A annotated/OMIM-612271.tab A annotated/OMIM-612278.tab A annotated/OMIM-612281.tab A annotated/OMIM-612284.tab A annotated/OMIM-612285.tab A annotated/OMIM-612286.tab A annotated/OMIM-612287.tab A annotated/OMIM-612290.tab A annotated/OMIM-612291.tab A annotated/OMIM-612292.tab A annotated/OMIM-612300.tab A annotated/OMIM-612301.tab A annotated/OMIM-612304.tab A annotated/OMIM-612310.tab AU annotated/OMIM-612313.tab A annotated/OMIM-612319.tab A annotated/OMIM-612335.tab A annotated/OMIM-612336.tab AU annotated/OMIM-612337.tab A annotated/OMIM-612347.tab A annotated/OMIM-612348.tab A annotated/OMIM-612350.tab AU annotated/OMIM-612353.tab A annotated/OMIM-612354.tab A annotated/OMIM-612356.tab A annotated/OMIM-612359.tab A annotated/OMIM-612370.tab A annotated/OMIM-612376.tab A annotated/OMIM-612379.tab A annotated/OMIM-612389.tab A annotated/OMIM-612390.tab A annotated/OMIM-612394.tab A annotated/OMIM-612406.tab A annotated/OMIM-612416.tab AU annotated/OMIM-612422.tab A annotated/OMIM-612423.tab A annotated/OMIM-612431.tab A annotated/OMIM-612433.tab A annotated/OMIM-612437.tab A annotated/OMIM-612438.tab A annotated/OMIM-612444.tab A annotated/OMIM-612446.tab A annotated/OMIM-612447.tab A annotated/OMIM-612460.tab A annotated/OMIM-612462.tab A annotated/OMIM-612463.tab AU annotated/OMIM-612474.tab A annotated/OMIM-612475.tab A annotated/OMIM-612513.tab A annotated/OMIM-612518.tab A annotated/OMIM-612520.tab A annotated/OMIM-612526.tab A annotated/OMIM-612527.tab A annotated/OMIM-612528.tab A annotated/OMIM-612529.tab A annotated/OMIM-612530.tab A annotated/OMIM-612539.tab A annotated/OMIM-612540.tab A annotated/OMIM-612541.tab A annotated/OMIM-612551.tab A annotated/OMIM-612555.tab A annotated/OMIM-612561.tab A annotated/OMIM-612562.tab A annotated/OMIM-612563.tab A annotated/OMIM-612567.tab A annotated/OMIM-612572.tab AU annotated/OMIM-612576.tab A annotated/OMIM-612577.tab A annotated/OMIM-612580.tab A annotated/OMIM-612581.tab A annotated/OMIM-612582.tab AU annotated/OMIM-612591.tab A annotated/OMIM-612621.tab A annotated/OMIM-612626.tab AU annotated/OMIM-612631.tab A annotated/OMIM-612642.tab A annotated/OMIM-612643.tab A annotated/OMIM-612644.tab AU annotated/OMIM-612645.tab A annotated/OMIM-612649.tab A annotated/OMIM-612650.tab A annotated/OMIM-612651.tab A annotated/OMIM-612653.tab A annotated/OMIM-612656.tab A annotated/OMIM-612657.tab A annotated/OMIM-612666.tab AU annotated/OMIM-612671.tab A annotated/OMIM-612674.tab A annotated/OMIM-612690.tab AU annotated/OMIM-612691.tab AU annotated/OMIM-612692.tab A annotated/OMIM-612702.tab A annotated/OMIM-612703.tab AU annotated/OMIM-612712.tab A annotated/OMIM-612713.tab A annotated/OMIM-612714.tab A annotated/OMIM-612716.tab A annotated/OMIM-612717.tab A annotated/OMIM-612718.tab A annotated/OMIM-612726.tab A annotated/OMIM-612731.tab A annotated/OMIM-612736.tab A annotated/OMIM-612740.tab A annotated/OMIM-612775.tab A annotated/OMIM-612776.tab A annotated/OMIM-612780.tab A annotated/OMIM-612781.tab A annotated/OMIM-612782.tab A annotated/OMIM-612783.tab A annotated/OMIM-612789.tab A annotated/OMIM-612794.tab A annotated/OMIM-612798.tab A annotated/OMIM-612813.tab A annotated/OMIM-612838.tab A annotated/OMIM-612840.tab A annotated/OMIM-612843.tab A annotated/OMIM-612847.tab AU annotated/OMIM-612852.tab AU annotated/OMIM-612867.tab AU annotated/OMIM-612868.tab A annotated/OMIM-612874.tab A annotated/OMIM-612877.tab AU annotated/OMIM-612885.tab A annotated/OMIM-612900.tab A annotated/OMIM-612908.tab A annotated/OMIM-612913.tab AU annotated/OMIM-612916.tab A annotated/OMIM-612917.tab AU annotated/OMIM-612918.tab A annotated/OMIM-612921.tab AU annotated/OMIM-612922.tab AU annotated/OMIM-612923.tab AU annotated/OMIM-612924.tab AU annotated/OMIM-612925.tab AU annotated/OMIM-612926.tab A annotated/OMIM-612932.tab A annotated/OMIM-612933.tab A annotated/OMIM-612934.tab A annotated/OMIM-612936.tab A annotated/OMIM-612937.tab A annotated/OMIM-612938.tab A annotated/OMIM-612940.tab AU annotated/OMIM-612943.tab A annotated/OMIM-612946.tab A annotated/OMIM-612947.tab A annotated/OMIM-612948.tab A annotated/OMIM-612949.tab A annotated/OMIM-612951.tab A annotated/OMIM-612952.tab A annotated/OMIM-612953.tab A annotated/OMIM-612954.tab A annotated/OMIM-612955.tab A annotated/OMIM-612956.tab A annotated/OMIM-612961.tab A annotated/OMIM-612964.tab A annotated/OMIM-612965.tab A annotated/OMIM-612975.tab A annotated/OMIM-612989.tab A annotated/OMIM-612997.tab A annotated/OMIM-612998.tab A annotated/OMIM-612999.tab A annotated/OMIM-613000.tab AU annotated/OMIM-613001.tab A annotated/OMIM-613002.tab A annotated/OMIM-613005.tab A annotated/OMIM-613011.tab A annotated/OMIM-613013.tab A annotated/OMIM-613021.tab A annotated/OMIM-613024.tab A annotated/OMIM-613026.tab A annotated/OMIM-613027.tab AU annotated/OMIM-613029.tab A annotated/OMIM-613038.tab AU annotated/OMIM-613060.tab A annotated/OMIM-613065.tab A annotated/OMIM-613068.tab A annotated/OMIM-613070.tab A annotated/OMIM-613071.tab A annotated/OMIM-613073.tab A annotated/OMIM-613074.tab AU annotated/OMIM-613075.tab A annotated/OMIM-613076.tab AU annotated/OMIM-613077.tab A annotated/OMIM-613078.tab A annotated/OMIM-613079.tab A annotated/OMIM-613080.tab A annotated/OMIM-613086.tab AU annotated/OMIM-613087.tab A annotated/OMIM-613090.tab A annotated/OMIM-613091.tab AU annotated/OMIM-613092.tab A annotated/OMIM-613093.tab A annotated/OMIM-613094.tab A annotated/OMIM-613095.tab A annotated/OMIM-613096.tab A annotated/OMIM-613097.tab A annotated/OMIM-613100.tab A annotated/OMIM-613101.tab AU annotated/OMIM-613102.tab A annotated/OMIM-613105.tab A annotated/OMIM-613107.tab A annotated/OMIM-613108.tab A annotated/OMIM-613112.tab A annotated/OMIM-613115.tab A annotated/OMIM-613116.tab AU annotated/OMIM-613118.tab A annotated/OMIM-613119.tab A annotated/OMIM-613120.tab A annotated/OMIM-613122.tab A annotated/OMIM-613123.tab A annotated/OMIM-613124.tab A annotated/OMIM-613135.tab A annotated/OMIM-613144.tab AU annotated/OMIM-613148.tab AU annotated/OMIM-613150.tab AU annotated/OMIM-613151.tab AU annotated/OMIM-613152.tab AU annotated/OMIM-613153.tab AU annotated/OMIM-613154.tab AU annotated/OMIM-613155.tab AU annotated/OMIM-613156.tab AU annotated/OMIM-613157.tab AU annotated/OMIM-613158.tab AU annotated/OMIM-613159.tab A annotated/OMIM-613161.tab A annotated/OMIM-613162.tab A annotated/OMIM-613163.tab A annotated/OMIM-613172.tab A annotated/OMIM-613174.tab AU annotated/OMIM-613177.tab A annotated/OMIM-613179.tab A annotated/OMIM-613180.tab AU annotated/OMIM-613192.tab AU annotated/OMIM-613193.tab A annotated/OMIM-613194.tab AU annotated/OMIM-613195.tab AU annotated/OMIM-613204.tab AU annotated/OMIM-613205.tab AU annotated/OMIM-613206.tab A annotated/OMIM-613211.tab A annotated/OMIM-613216.tab A annotated/OMIM-613217.tab A annotated/OMIM-613224.tab A annotated/OMIM-613225.tab A annotated/OMIM-613227.tab A annotated/OMIM-613229.tab A annotated/OMIM-613235.tab A annotated/OMIM-613237.tab A annotated/OMIM-613239.tab AU annotated/OMIM-613241.tab A annotated/OMIM-613243.tab A annotated/OMIM-613244.tab A annotated/OMIM-613251.tab A annotated/OMIM-613252.tab A annotated/OMIM-613254.tab A annotated/OMIM-613255.tab A annotated/OMIM-613265.tab A annotated/OMIM-613266.tab A annotated/OMIM-613267.tab A annotated/OMIM-613268.tab A annotated/OMIM-613270.tab AU annotated/OMIM-613280.tab AU annotated/OMIM-613282.tab A annotated/OMIM-613285.tab A annotated/OMIM-613286.tab AU annotated/OMIM-613287.tab A annotated/OMIM-613291.tab A annotated/OMIM-613307.tab A annotated/OMIM-613308.tab A annotated/OMIM-613309.tab A annotated/OMIM-613310.tab A annotated/OMIM-613312.tab A annotated/OMIM-613313.tab A annotated/OMIM-613319.tab A annotated/OMIM-613320.tab A annotated/OMIM-613325.tab A annotated/OMIM-613327.tab A annotated/OMIM-613328.tab A annotated/OMIM-613329.tab A annotated/OMIM-613330.tab A annotated/OMIM-613339.tab A annotated/OMIM-613341.tab A annotated/OMIM-613342.tab A annotated/OMIM-613345.tab A annotated/OMIM-613347.tab A annotated/OMIM-613353.tab A annotated/OMIM-613355.tab AU annotated/OMIM-613364.tab AU annotated/OMIM-613370.tab AU annotated/OMIM-613371.tab AU annotated/OMIM-613375.tab A annotated/OMIM-613376.tab A annotated/OMIM-613382.tab AU annotated/OMIM-613385.tab AU annotated/OMIM-613387.tab AU annotated/OMIM-613388.tab AU annotated/OMIM-613390.tab A annotated/OMIM-613391.tab A annotated/OMIM-613392.tab AU annotated/OMIM-613398.tab AU annotated/OMIM-613402.tab AU annotated/OMIM-613404.tab A annotated/OMIM-613406.tab A annotated/OMIM-613411.tab AU annotated/OMIM-613412.tab AU annotated/OMIM-613418.tab A annotated/OMIM-613424.tab AU annotated/OMIM-613426.tab A annotated/OMIM-613428.tab A annotated/OMIM-613435.tab AU annotated/OMIM-613443.tab AU annotated/OMIM-613451.tab A annotated/OMIM-613453.tab AU annotated/OMIM-613454.tab A annotated/OMIM-613456.tab AU annotated/OMIM-613457.tab AU annotated/OMIM-613458.tab A annotated/OMIM-613464.tab A annotated/OMIM-613470.tab AU annotated/OMIM-613471.tab AU annotated/OMIM-613477.tab AU annotated/OMIM-613480.tab A annotated/OMIM-613485.tab A annotated/OMIM-613488.tab AU annotated/OMIM-613489.tab AU annotated/OMIM-613490.tab AU annotated/OMIM-613493.tab AU annotated/OMIM-613494.tab AU annotated/OMIM-613495.tab AU annotated/OMIM-613496.tab AU annotated/OMIM-613500.tab AU annotated/OMIM-613501.tab AU annotated/OMIM-613502.tab A annotated/OMIM-613506.tab AU annotated/OMIM-613507.tab AU annotated/OMIM-613509.tab AU annotated/OMIM-613517.tab AU annotated/OMIM-613530.tab AU annotated/OMIM-613544.tab A annotated/OMIM-613546.tab AU annotated/OMIM-613550.tab AU annotated/OMIM-613554.tab AU annotated/OMIM-613558.tab AU annotated/OMIM-613559.tab AU annotated/OMIM-613561.tab A annotated/OMIM-613563.tab A annotated/OMIM-613571.tab A annotated/OMIM-613573.tab A annotated/OMIM-613575.tab AU annotated/OMIM-613576.tab AU annotated/OMIM-613581.tab AU annotated/OMIM-613582.tab AU annotated/OMIM-613587.tab A annotated/OMIM-613589.tab AU annotated/OMIM-613603.tab AU annotated/OMIM-613604.tab AU annotated/OMIM-613606.tab AU annotated/OMIM-613608.tab AU annotated/OMIM-613610.tab AU annotated/OMIM-613611.tab A annotated/OMIM-613612.tab A annotated/OMIM-613615.tab A annotated/OMIM-613616.tab A annotated/OMIM-613617.tab AU annotated/OMIM-613618.tab AU annotated/OMIM-613623.tab A annotated/OMIM-613625.tab AU annotated/OMIM-613627.tab AU annotated/OMIM-613628.tab A annotated/OMIM-613630.tab A annotated/OMIM-613638.tab AU annotated/OMIM-613640.tab AU annotated/OMIM-613641.tab A annotated/OMIM-613642.tab A annotated/OMIM-613646.tab AU annotated/OMIM-613647.tab AU annotated/OMIM-613652.tab A annotated/OMIM-613657.tab AU annotated/OMIM-613658.tab A annotated/OMIM-613659.tab AU annotated/OMIM-613660.tab AU annotated/OMIM-613661.tab AU annotated/OMIM-613662.tab AU annotated/OMIM-613668.tab AU annotated/OMIM-613670.tab AU annotated/OMIM-613671.tab AU annotated/OMIM-613672.tab AU annotated/OMIM-613673.tab AU annotated/OMIM-613674.tab A annotated/OMIM-613675.tab AU annotated/OMIM-613676.tab A annotated/OMIM-613677.tab AU annotated/OMIM-613678.tab AU annotated/OMIM-613679.tab AU annotated/OMIM-613680.tab AU annotated/OMIM-613681.tab A annotated/OMIM-613684.tab A annotated/OMIM-613685.tab AU annotated/OMIM-613686.tab AU annotated/OMIM-613688.tab AU annotated/OMIM-613689.tab AU annotated/OMIM-613690.tab AU annotated/OMIM-613693.tab AU annotated/OMIM-613694.tab AU annotated/OMIM-613695.tab A annotated/OMIM-613697.tab A annotated/OMIM-613702.tab A annotated/OMIM-613703.tab A annotated/OMIM-613704.tab A annotated/OMIM-613705.tab A annotated/OMIM-613706.tab A annotated/OMIM-613707.tab AU annotated/OMIM-613708.tab AU annotated/OMIM-613710.tab AU annotated/OMIM-613717.tab AU annotated/OMIM-613718.tab AU annotated/OMIM-613720.tab AU annotated/OMIM-613721.tab AU annotated/OMIM-613722.tab AU annotated/OMIM-613723.tab A annotated/OMIM-613724.tab AU annotated/OMIM-613728.tab AU annotated/OMIM-613730.tab A annotated/OMIM-613731.tab AU annotated/OMIM-613735.tab A annotated/OMIM-613736.tab A annotated/OMIM-613737.tab A annotated/OMIM-613740.tab A annotated/OMIM-613743.tab AU annotated/OMIM-613744.tab AU annotated/OMIM-613750.tab A annotated/OMIM-613751.tab A annotated/OMIM-613752.tab A annotated/OMIM-613756.tab A annotated/OMIM-613757.tab A annotated/OMIM-613758.tab AU annotated/OMIM-613759.tab AU annotated/OMIM-613762.tab AU annotated/OMIM-613763.tab A annotated/OMIM-613765.tab A annotated/OMIM-613767.tab A annotated/OMIM-613769.tab AU annotated/OMIM-613776.tab AU annotated/OMIM-613779.tab AU annotated/OMIM-613780.tab A annotated/OMIM-613783.tab AU annotated/OMIM-613789.tab AU annotated/OMIM-613790.tab A annotated/OMIM-613791.tab AU annotated/OMIM-613792.tab A annotated/OMIM-613794.tab AU annotated/OMIM-613795.tab A annotated/OMIM-613796.tab AU annotated/OMIM-613800.tab AU annotated/OMIM-613801.tab AU annotated/OMIM-613803.tab AU annotated/OMIM-613804.tab AU annotated/OMIM-613805.tab A annotated/OMIM-613807.tab A annotated/OMIM-613808.tab A annotated/OMIM-613809.tab A annotated/OMIM-613810.tab AU annotated/OMIM-613811.tab AU annotated/OMIM-613812.tab AU annotated/OMIM-613818.tab A annotated/OMIM-613819.tab A annotated/OMIM-613820.tab A annotated/OMIM-613823.tab A annotated/OMIM-613824.tab A annotated/OMIM-613825.tab A annotated/OMIM-613826.tab A annotated/OMIM-613827.tab A annotated/OMIM-613829.tab AU annotated/OMIM-613830.tab AU annotated/OMIM-613834.tab A annotated/OMIM-613835.tab A annotated/OMIM-613837.tab AU annotated/OMIM-613838.tab AU annotated/OMIM-613839.tab AU annotated/OMIM-613843.tab AU annotated/OMIM-613845.tab AU annotated/OMIM-613848.tab AU annotated/OMIM-613849.tab A annotated/OMIM-613853.tab A annotated/OMIM-613854.tab A annotated/OMIM-613855.tab A annotated/OMIM-613856.tab AU annotated/OMIM-613857.tab A annotated/OMIM-613860.tab AU annotated/OMIM-613861.tab AU annotated/OMIM-613862.tab AU annotated/OMIM-613863.tab A annotated/OMIM-613865.tab AU annotated/OMIM-613869.tab A annotated/OMIM-613870.tab AU annotated/OMIM-613873.tab AU annotated/OMIM-613874.tab AU annotated/OMIM-613875.tab AU annotated/OMIM-613876.tab AU annotated/OMIM-613877.tab AU annotated/OMIM-613881.tab AU annotated/OMIM-613882.tab AU annotated/OMIM-613884.tab A annotated/OMIM-613885.tab A annotated/OMIM-613886.tab A annotated/OMIM-613887.tab AU annotated/OMIM-613908.tab A annotated/OMIM-613909.tab AU annotated/OMIM-613912.tab AU annotated/OMIM-613913.tab AU annotated/OMIM-613916.tab AU annotated/OMIM-613925.tab AU annotated/OMIM-613926.tab AU annotated/OMIM-613930.tab AU annotated/OMIM-613933.tab AU annotated/OMIM-613938.tab AU annotated/OMIM-613943.tab A annotated/OMIM-613944.tab A annotated/OMIM-613949.tab A annotated/OMIM-613950.tab AU annotated/OMIM-613951.tab A annotated/OMIM-613953.tab A annotated/OMIM-613954.tab A annotated/OMIM-613955.tab A annotated/OMIM-613956.tab AU annotated/OMIM-613957.tab AU annotated/OMIM-613958.tab AU annotated/OMIM-613960.tab AU annotated/OMIM-613969.tab A annotated/OMIM-613970.tab AU annotated/OMIM-613977.tab A annotated/OMIM-613978.tab AU annotated/OMIM-613980.tab A annotated/OMIM-613981.tab A annotated/OMIM-613982.tab AU annotated/OMIM-613983.tab A annotated/OMIM-613985.tab AU annotated/OMIM-613986.tab AU annotated/OMIM-613987.tab AU annotated/OMIM-613988.tab AU annotated/OMIM-613989.tab AU annotated/OMIM-613990.tab AU annotated/OMIM-614008.tab AU annotated/OMIM-614009.tab AU annotated/OMIM-614017.tab AU annotated/OMIM-614018.tab AU annotated/OMIM-614019.tab A annotated/OMIM-614020.tab AU annotated/OMIM-614021.tab AU annotated/OMIM-614022.tab A annotated/OMIM-614023.tab AU annotated/OMIM-614025.tab A annotated/OMIM-614028.tab AU annotated/OMIM-614033.tab A annotated/OMIM-614034.tab A annotated/OMIM-614035.tab AU annotated/OMIM-614036.tab AU annotated/OMIM-614037.tab AU annotated/OMIM-614038.tab AU annotated/OMIM-614039.tab A annotated/OMIM-614042.tab AU annotated/OMIM-614044.tab AU annotated/OMIM-614049.tab AU annotated/OMIM-614050.tab AU annotated/OMIM-614052.tab A annotated/OMIM-614053.tab AU annotated/OMIM-614055.tab A annotated/OMIM-614063.tab AU annotated/OMIM-614065.tab AU annotated/OMIM-614066.tab AU annotated/OMIM-614067.tab AU annotated/OMIM-614069.tab A annotated/OMIM-614072.tab A annotated/OMIM-614073.tab A annotated/OMIM-614074.tab A annotated/OMIM-614075.tab A annotated/OMIM-614076.tab A annotated/OMIM-614077.tab AU annotated/OMIM-614078.tab AU annotated/OMIM-614080.tab A annotated/OMIM-614082.tab A annotated/OMIM-614083.tab A annotated/OMIM-614087.tab A annotated/OMIM-614089.tab A annotated/OMIM-614091.tab AU annotated/OMIM-614096.tab A annotated/OMIM-614097.tab AU annotated/OMIM-614098.tab AU annotated/OMIM-614099.tab AU annotated/OMIM-614100.tab A annotated/OMIM-614101.tab AU annotated/OMIM-614102.tab AU annotated/OMIM-614103.tab A annotated/OMIM-614104.tab AU annotated/OMIM-614105.tab A annotated/OMIM-614111.tab A annotated/OMIM-614113.tab AU annotated/OMIM-614114.tab AU annotated/OMIM-614115.tab AU annotated/OMIM-614116.tab AU annotated/OMIM-614120.tab A annotated/OMIM-614122.tab A annotated/OMIM-614128.tab A annotated/OMIM-614129.tab AU annotated/OMIM-614131.tab AU annotated/OMIM-614132.tab A annotated/OMIM-614134.tab AU annotated/OMIM-614135.tab AU annotated/OMIM-614149.tab AU annotated/OMIM-614152.tab AU annotated/OMIM-614153.tab AU annotated/OMIM-614156.tab AU annotated/OMIM-614157.tab AU annotated/OMIM-614158.tab A annotated/OMIM-614160.tab A annotated/OMIM-614162.tab AU annotated/OMIM-614164.tab AU annotated/OMIM-614165.tab AU annotated/OMIM-614167.tab AU annotated/OMIM-614170.tab AU annotated/OMIM-614171.tab A annotated/OMIM-614172.tab AU annotated/OMIM-614173.tab AU annotated/OMIM-614175.tab A annotated/OMIM-614180.tab AU annotated/OMIM-614181.tab AU annotated/OMIM-614185.tab AU annotated/OMIM-614186.tab AU annotated/OMIM-614187.tab AU annotated/OMIM-614188.tab A annotated/OMIM-614190.tab A annotated/OMIM-614192.tab A annotated/OMIM-614195.tab AU annotated/OMIM-614196.tab A annotated/OMIM-614198.tab A annotated/OMIM-614199.tab AU annotated/OMIM-614200.tab AU annotated/OMIM-614201.tab AU annotated/OMIM-614202.tab AU annotated/OMIM-614203.tab AU annotated/OMIM-614204.tab AU annotated/OMIM-614205.tab AU annotated/OMIM-614207.tab A annotated/OMIM-614208.tab A annotated/OMIM-614209.tab AU annotated/OMIM-614211.tab AU annotated/OMIM-614212.tab AU annotated/OMIM-614213.tab AU annotated/OMIM-614219.tab A annotated/OMIM-614222.tab AU annotated/OMIM-614224.tab A annotated/OMIM-614225.tab A annotated/OMIM-614226.tab AU annotated/OMIM-614227.tab AU annotated/OMIM-614228.tab AU annotated/OMIM-614229.tab AU annotated/OMIM-614230.tab AU annotated/OMIM-614231.tab A annotated/OMIM-614233.tab A annotated/OMIM-614249.tab AU annotated/OMIM-614250.tab AU annotated/OMIM-614251.tab AU annotated/OMIM-614253.tab A annotated/OMIM-614254.tab A annotated/OMIM-614255.tab A annotated/OMIM-614256.tab A annotated/OMIM-614257.tab AU annotated/OMIM-614261.tab AU annotated/OMIM-614262.tab A annotated/OMIM-614265.tab A annotated/OMIM-614266.tab A annotated/OMIM-614278.tab AU annotated/OMIM-614279.tab AU annotated/OMIM-614280.tab AU annotated/OMIM-614284.tab A annotated/OMIM-614286.tab AU annotated/OMIM-614292.tab AU annotated/OMIM-614293.tab AU annotated/OMIM-614294.tab AU annotated/OMIM-614296.tab AU annotated/OMIM-614298.tab AU annotated/OMIM-614299.tab AU annotated/OMIM-614300.tab AU annotated/OMIM-614302.tab AU annotated/OMIM-614303.tab AU annotated/OMIM-614305.tab AU annotated/OMIM-614306.tab AU annotated/OMIM-614307.tab AU annotated/OMIM-614321.tab AU annotated/OMIM-614322.tab AU annotated/OMIM-614323.tab AU annotated/OMIM-614324.tab AU annotated/OMIM-614325.tab AU annotated/OMIM-614326.tab AU annotated/OMIM-614327.tab AU annotated/OMIM-614328.tab AU annotated/OMIM-614329.tab A annotated/OMIM-614331.tab A annotated/OMIM-614333.tab A annotated/OMIM-614335.tab A annotated/OMIM-614337.tab AU annotated/OMIM-614338.tab AU annotated/OMIM-614340.tab A annotated/OMIM-614341.tab A annotated/OMIM-614342.tab A annotated/OMIM-614343.tab A annotated/OMIM-614344.tab A annotated/OMIM-614345.tab A annotated/OMIM-614346.tab A annotated/OMIM-614347.tab A annotated/OMIM-614350.tab AU annotated/OMIM-614369.tab AU annotated/OMIM-614370.tab A annotated/OMIM-614372.tab AU annotated/OMIM-614373.tab AU annotated/OMIM-614376.tab AU annotated/OMIM-614377.tab AU annotated/OMIM-614378.tab A annotated/OMIM-614379.tab AU annotated/OMIM-614380.tab A annotated/OMIM-614381.tab A annotated/OMIM-614385.tab AU annotated/OMIM-614388.tab AU annotated/OMIM-614389.tab AU annotated/OMIM-614390.tab AU annotated/OMIM-614391.tab AU annotated/OMIM-614399.tab AU annotated/OMIM-614402.tab AU annotated/OMIM-614407.tab AU annotated/OMIM-614408.tab AU annotated/OMIM-614409.tab AU annotated/OMIM-614411.tab AU annotated/OMIM-614414.tab AU annotated/OMIM-614415.tab A annotated/OMIM-614416.tab AU annotated/OMIM-614417.tab AU annotated/OMIM-614418.tab AU annotated/OMIM-614420.tab AU annotated/OMIM-614422.tab AU annotated/OMIM-614424.tab AU annotated/OMIM-614429.tab AU annotated/OMIM-614430.tab AU annotated/OMIM-614431.tab AU annotated/OMIM-614432.tab AU annotated/OMIM-614433.tab A annotated/OMIM-614434.tab AU annotated/OMIM-614435.tab AU annotated/OMIM-614436.tab AU annotated/OMIM-614437.tab A annotated/OMIM-614438.tab AU annotated/OMIM-614441.tab AU annotated/OMIM-614450.tab AU annotated/OMIM-614455.tab A annotated/OMIM-614456.tab AU annotated/OMIM-614457.tab AU annotated/OMIM-614458.tab AU annotated/OMIM-614462.tab AU annotated/OMIM-614464.tab AU annotated/OMIM-614465.tab AU annotated/OMIM-614468.tab A annotated/OMIM-614470.tab AU annotated/OMIM-614473.tab AU annotated/OMIM-614474.tab AU annotated/OMIM-614475.tab AU annotated/OMIM-614480.tab AU annotated/OMIM-614482.tab AU annotated/OMIM-614483.tab AU annotated/OMIM-614485.tab A annotated/OMIM-614486.tab AU annotated/OMIM-614487.tab AU annotated/OMIM-614491.tab AU annotated/OMIM-614492.tab A annotated/OMIM-614493.tab AU annotated/OMIM-614494.tab AU annotated/OMIM-614495.tab AU annotated/OMIM-614496.tab AU annotated/OMIM-614497.tab AU annotated/OMIM-614498.tab A annotated/OMIM-614499.tab AU annotated/OMIM-614500.tab AU annotated/OMIM-614501.tab AU annotated/OMIM-614504.tab AU annotated/OMIM-614507.tab AU annotated/OMIM-614508.tab AU annotated/OMIM-614514.tab AU annotated/OMIM-614520.tab AU annotated/OMIM-614521.tab AU annotated/OMIM-614524.tab AU annotated/OMIM-614526.tab AU annotated/OMIM-614527.tab AU annotated/OMIM-614541.tab AU annotated/OMIM-614557.tab AU annotated/OMIM-614558.tab AU annotated/OMIM-614559.tab AU annotated/OMIM-614561.tab A annotated/OMIM-614562.tab A annotated/OMIM-614563.tab AU annotated/OMIM-614564.tab AU annotated/OMIM-614565.tab A annotated/OMIM-614569.tab AU annotated/OMIM-614575.tab AU annotated/OMIM-614576.tab AU annotated/OMIM-614582.tab A annotated/OMIM-614583.tab AU annotated/OMIM-614588.tab AU annotated/OMIM-614592.tab AU annotated/OMIM-614594.tab A annotated/OMIM-614595.tab AU annotated/OMIM-614602.tab A annotated/OMIM-614607.tab A annotated/OMIM-614608.tab A annotated/OMIM-614609.tab AU annotated/OMIM-614613.tab AU annotated/OMIM-614614.tab AU annotated/OMIM-614615.tab AU annotated/OMIM-614616.tab AU annotated/OMIM-614617.tab AU annotated/OMIM-614618.tab A annotated/OMIM-614619.tab AU annotated/OMIM-614621.tab AU annotated/OMIM-614622.tab AU annotated/OMIM-614623.tab AU annotated/OMIM-614628.tab AU annotated/OMIM-614629.tab AU annotated/OMIM-614640.tab AU annotated/OMIM-614643.tab AU annotated/OMIM-614650.tab AU annotated/OMIM-614651.tab AU annotated/OMIM-614652.tab AU annotated/OMIM-614653.tab AU annotated/OMIM-614654.tab AU annotated/OMIM-614662.tab AU annotated/OMIM-614665.tab AU annotated/OMIM-614669.tab AU annotated/OMIM-614672.tab AU annotated/OMIM-614673.tab AU annotated/OMIM-614674.tab AU annotated/OMIM-614675.tab AU annotated/OMIM-614676.tab AU annotated/OMIM-614678.tab AU annotated/OMIM-614679.tab AU annotated/OMIM-614684.tab A annotated/OMIM-614687.tab A annotated/OMIM-614688.tab AU annotated/OMIM-614691.tab AU annotated/OMIM-614696.tab AU annotated/OMIM-614699.tab AU annotated/OMIM-614700.tab AU annotated/OMIM-614701.tab AU annotated/OMIM-614702.tab AU annotated/OMIM-614706.tab AU annotated/OMIM-614707.tab AU annotated/OMIM-614714.tab AU annotated/OMIM-614723.tab AU annotated/OMIM-614727.tab A annotated/OMIM-614728.tab A annotated/OMIM-614732.tab AU annotated/OMIM-614736.tab AU annotated/OMIM-614739.tab AU annotated/OMIM-614741.tab AU annotated/OMIM-614742.tab AU annotated/OMIM-614743.tab AU annotated/OMIM-614744.tab A annotated/OMIM-614748.tab AU annotated/OMIM-614749.tab AU annotated/OMIM-614750.tab AU annotated/OMIM-614751.tab A annotated/OMIM-614753.tab AU annotated/OMIM-614756.tab AU annotated/OMIM-614779.tab AU annotated/OMIM-614782.tab AU annotated/OMIM-614800.tab AU annotated/OMIM-614807.tab A annotated/OMIM-614808.tab AU annotated/OMIM-614809.tab AU annotated/OMIM-614813.tab AU annotated/OMIM-614814.tab AU annotated/OMIM-614815.tab AU annotated/OMIM-614816.tab AU annotated/OMIM-614817.tab AU annotated/OMIM-614819.tab AU annotated/OMIM-614820.tab AU annotated/OMIM-614822.tab AU annotated/OMIM-614823.tab AU annotated/OMIM-614826.tab AU annotated/OMIM-614830.tab AU annotated/OMIM-614831.tab A annotated/OMIM-614832.tab AU annotated/OMIM-614833.tab A annotated/OMIM-614837.tab A annotated/OMIM-614838.tab A annotated/OMIM-614839.tab A annotated/OMIM-614840.tab A annotated/OMIM-614841.tab A annotated/OMIM-614842.tab AU annotated/OMIM-614844.tab AU annotated/OMIM-614845.tab AU annotated/OMIM-614847.tab A annotated/OMIM-614850.tab AU annotated/OMIM-614851.tab AU annotated/OMIM-614852.tab AU annotated/OMIM-614856.tab AU annotated/OMIM-614857.tab AU annotated/OMIM-614858.tab A annotated/OMIM-614859.tab AU annotated/OMIM-614860.tab AU annotated/OMIM-614861.tab A annotated/OMIM-614862.tab A annotated/OMIM-614863.tab A annotated/OMIM-614866.tab A annotated/OMIM-614867.tab A annotated/OMIM-614868.tab AU annotated/OMIM-614869.tab A annotated/OMIM-614870.tab A annotated/OMIM-614871.tab A annotated/OMIM-614872.tab A annotated/OMIM-614873.tab AU annotated/OMIM-614874.tab A annotated/OMIM-614876.tab A annotated/OMIM-614877.tab AU annotated/OMIM-614878.tab A annotated/OMIM-614879.tab AU annotated/OMIM-614880.tab AU annotated/OMIM-614881.tab A annotated/OMIM-614882.tab A annotated/OMIM-614883.tab A annotated/OMIM-614885.tab A annotated/OMIM-614886.tab A annotated/OMIM-614887.tab A annotated/OMIM-614889.tab A annotated/OMIM-614890.tab A annotated/OMIM-614891.tab A annotated/OMIM-614892.tab A annotated/OMIM-614893.tab AU annotated/OMIM-614894.tab AU annotated/OMIM-614895.tab AU annotated/OMIM-614896.tab AU annotated/OMIM-614897.tab AU annotated/OMIM-614898.tab AU annotated/OMIM-614899.tab A annotated/OMIM-614900.tab A annotated/OMIM-614915.tab AU annotated/OMIM-614916.tab A annotated/OMIM-614920.tab AU annotated/OMIM-614921.tab AU annotated/OMIM-614922.tab A annotated/OMIM-614923.tab AU annotated/OMIM-614924.tab AU annotated/OMIM-614926.tab AU annotated/OMIM-614927.tab AU annotated/OMIM-614928.tab AU annotated/OMIM-614929.tab AU annotated/OMIM-614931.tab AU annotated/OMIM-614932.tab AU annotated/OMIM-614934.tab AU annotated/OMIM-614935.tab AU annotated/OMIM-614936.tab AU annotated/OMIM-614937.tab A annotated/OMIM-614940.tab A annotated/OMIM-614941.tab AU annotated/OMIM-614944.tab AU annotated/OMIM-614945.tab AU annotated/OMIM-614946.tab AU annotated/OMIM-614947.tab AU annotated/OMIM-614954.tab AU annotated/OMIM-614959.tab AU annotated/OMIM-614961.tab A annotated/OMIM-614962.tab A annotated/OMIM-614963.tab AU annotated/OMIM-614969.tab A annotated/OMIM-614970.tab AU annotated/OMIM-614972.tab AU annotated/OMIM-614974.tab AU annotated/OMIM-614976.tab AU annotated/OMIM-614979.tab A annotated/OMIM-614980.tab AU annotated/OMIM-614990.tab A annotated/OMIM-615005.tab A annotated/OMIM-615006.tab A annotated/OMIM-615007.tab AU annotated/OMIM-615008.tab A annotated/OMIM-615009.tab AU annotated/OMIM-615010.tab A annotated/OMIM-615022.tab AU annotated/OMIM-615023.tab AU annotated/OMIM-615024.tab AU annotated/OMIM-615025.tab A annotated/OMIM-615026.tab AU annotated/OMIM-615028.tab AU annotated/OMIM-615030.tab AU annotated/OMIM-615031.tab A annotated/OMIM-615032.tab AU annotated/OMIM-615033.tab AU annotated/OMIM-615034.tab AU annotated/OMIM-615035.tab AU annotated/OMIM-615040.tab AU annotated/OMIM-615041.tab AU annotated/OMIM-615042.tab AU annotated/OMIM-615043.tab AU annotated/OMIM-615048.tab AU annotated/OMIM-615057.tab AU annotated/OMIM-615058.tab AU annotated/OMIM-615059.tab AU annotated/OMIM-615065.tab A annotated/OMIM-615066.tab AU annotated/OMIM-615067.tab AU annotated/OMIM-615071.tab AU annotated/OMIM-615072.tab AU annotated/OMIM-615073.tab A annotated/OMIM-615074.tab AU annotated/OMIM-615075.tab AU annotated/OMIM-615081.tab AU annotated/OMIM-615082.tab AU annotated/OMIM-615083.tab AU annotated/OMIM-615084.tab AU annotated/OMIM-615085.tab AU annotated/OMIM-615092.tab AU annotated/OMIM-615095.tab A annotated/OMIM-615102.tab A annotated/OMIM-615106.tab A annotated/OMIM-615107.tab A annotated/OMIM-615108.tab A annotated/OMIM-615109.tab AU annotated/OMIM-615112.tab AU annotated/OMIM-615113.tab AU annotated/OMIM-615119.tab AU annotated/OMIM-615120.tab A annotated/OMIM-615121.tab AU annotated/OMIM-615122.tab AU annotated/OMIM-615127.tab AU annotated/OMIM-615133.tab A annotated/OMIM-615134.tab AU annotated/OMIM-615139.tab AU annotated/OMIM-615145.tab AU annotated/OMIM-615147.tab AU annotated/OMIM-615155.tab AU annotated/OMIM-615156.tab AU annotated/OMIM-615157.tab AU annotated/OMIM-615158.tab AU annotated/OMIM-615159.tab AU annotated/OMIM-615160.tab A annotated/OMIM-615162.tab AU annotated/OMIM-615163.tab AU annotated/OMIM-615170.tab AU annotated/OMIM-615179.tab AU annotated/OMIM-615181.tab AU annotated/OMIM-615182.tab AU annotated/OMIM-615184.tab AU annotated/OMIM-615185.tab AU annotated/OMIM-615188.tab AU annotated/OMIM-615190.tab AU annotated/OMIM-615191.tab AU annotated/OMIM-615193.tab AU annotated/OMIM-615198.tab AU annotated/OMIM-615206.tab AU annotated/OMIM-615207.tab AU annotated/OMIM-615214.tab AU annotated/OMIM-615217.tab AU annotated/OMIM-615219.tab AU annotated/OMIM-615220.tab AU annotated/OMIM-615222.tab AU annotated/OMIM-615224.tab AU annotated/OMIM-615225.tab AU annotated/OMIM-615226.tab AU annotated/OMIM-615228.tab AU annotated/OMIM-615233.tab AU annotated/OMIM-615234.tab AU annotated/OMIM-615235.tab A annotated/OMIM-615236.tab AU annotated/OMIM-615237.tab AU annotated/OMIM-615238.tab A annotated/OMIM-615244.tab AU annotated/OMIM-615248.tab AU annotated/OMIM-615249.tab AU annotated/OMIM-615264.tab AU annotated/OMIM-615266.tab AU annotated/OMIM-615267.tab AU annotated/OMIM-615268.tab AU annotated/OMIM-615269.tab AU annotated/OMIM-615270.tab AU annotated/OMIM-615271.tab AU annotated/OMIM-615272.tab AU annotated/OMIM-615273.tab A annotated/OMIM-615274.tab A annotated/OMIM-615277.tab A annotated/OMIM-615278.tab A annotated/OMIM-615279.tab A annotated/OMIM-615280.tab AU annotated/OMIM-615281.tab AU annotated/OMIM-615282.tab AU annotated/OMIM-615284.tab AU annotated/OMIM-615285.tab AU annotated/OMIM-615286.tab AU annotated/OMIM-615287.tab AU annotated/OMIM-615290.tab AU annotated/OMIM-615293.tab AU annotated/OMIM-615294.tab AU annotated/OMIM-615297.tab A annotated/OMIM-615298.tab A annotated/OMIM-615300.tab AU annotated/OMIM-615312.tab AU annotated/OMIM-615314.tab AU annotated/OMIM-615325.tab AU annotated/OMIM-615327.tab AU annotated/OMIM-615328.tab AU annotated/OMIM-615330.tab AU annotated/OMIM-615338.tab AU annotated/OMIM-615342.tab AU annotated/OMIM-615343.tab A annotated/OMIM-615344.tab AU annotated/OMIM-615346.tab A annotated/OMIM-615348.tab AU annotated/OMIM-615349.tab AU annotated/OMIM-615350.tab AU annotated/OMIM-615351.tab AU annotated/OMIM-615352.tab AU annotated/OMIM-615355.tab AU annotated/OMIM-615356.tab AU annotated/OMIM-615360.tab AU annotated/OMIM-615361.tab AU annotated/OMIM-615362.tab AU annotated/OMIM-615363.tab AU annotated/OMIM-615368.tab AU annotated/OMIM-615369.tab AU annotated/OMIM-615373.tab AU annotated/OMIM-615374.tab AU annotated/OMIM-615376.tab AU annotated/OMIM-615377.tab A annotated/OMIM-615378.tab AU annotated/OMIM-615381.tab AU annotated/OMIM-615382.tab AU annotated/OMIM-615386.tab AU annotated/OMIM-615387.tab AU annotated/OMIM-615395.tab AU annotated/OMIM-615396.tab AU annotated/OMIM-615397.tab AU annotated/OMIM-615398.tab AU annotated/OMIM-615399.tab AU annotated/OMIM-615400.tab AU annotated/OMIM-615401.tab AU annotated/OMIM-615402.tab AU annotated/OMIM-615411.tab AU annotated/OMIM-615412.tab AU annotated/OMIM-615413.tab AU annotated/OMIM-615414.tab AU annotated/OMIM-615415.tab AU annotated/OMIM-615418.tab AU annotated/OMIM-615419.tab AU annotated/OMIM-615420.tab A annotated/OMIM-615422.tab A annotated/OMIM-615424.tab AU annotated/OMIM-615425.tab A annotated/OMIM-615426.tab AU annotated/OMIM-615429.tab A annotated/OMIM-615431.tab AU annotated/OMIM-615432.tab AU annotated/OMIM-615433.tab AU annotated/OMIM-615434.tab AU annotated/OMIM-615436.tab A annotated/OMIM-615438.tab AU annotated/OMIM-615439.tab AU annotated/OMIM-615440.tab AU annotated/OMIM-615441.tab AU annotated/OMIM-615444.tab AU annotated/OMIM-615451.tab AU annotated/OMIM-615453.tab AU annotated/OMIM-615457.tab AU annotated/OMIM-615458.tab AU annotated/OMIM-615465.tab AU annotated/OMIM-615468.tab AU annotated/OMIM-615471.tab AU annotated/OMIM-615473.tab AU annotated/OMIM-615474.tab AU annotated/OMIM-615476.tab AU annotated/OMIM-615481.tab AU annotated/OMIM-615482.tab AU annotated/OMIM-615483.tab A annotated/OMIM-615485.tab AU annotated/OMIM-615486.tab AU annotated/OMIM-615490.tab AU annotated/OMIM-615491.tab AU annotated/OMIM-615493.tab AU annotated/OMIM-615500.tab A annotated/OMIM-615501.tab AU annotated/OMIM-615502.tab AU annotated/OMIM-615503.tab AU annotated/OMIM-615504.tab AU annotated/OMIM-615505.tab AU annotated/OMIM-615506.tab AU annotated/OMIM-615508.tab AU annotated/OMIM-615510.tab AU annotated/OMIM-615511.tab AU annotated/OMIM-615512.tab AU annotated/OMIM-615513.tab AU annotated/OMIM-615515.tab AU annotated/OMIM-615516.tab AU annotated/OMIM-615517.tab AU annotated/OMIM-615518.tab AU annotated/OMIM-615522.tab AU annotated/OMIM-615523.tab AU annotated/OMIM-615524.tab AU annotated/OMIM-615527.tab AU annotated/OMIM-615528.tab AU annotated/OMIM-615529.tab AU annotated/OMIM-615530.tab AU annotated/OMIM-615537.tab AU annotated/OMIM-615538.tab AU annotated/OMIM-615539.tab AU annotated/OMIM-615540.tab AU annotated/OMIM-615541.tab AU annotated/OMIM-615542.tab AU annotated/OMIM-615544.tab AU annotated/OMIM-615546.tab AU annotated/OMIM-615547.tab AU annotated/OMIM-615548.tab AU annotated/OMIM-615550.tab AU annotated/OMIM-615551.tab AU annotated/OMIM-615552.tab AU annotated/OMIM-615553.tab AU annotated/OMIM-615554.tab AU annotated/OMIM-615555.tab AU annotated/OMIM-615558.tab AU annotated/OMIM-615559.tab AU annotated/OMIM-615560.tab A annotated/OMIM-615561.tab AU annotated/OMIM-615565.tab AU annotated/OMIM-615573.tab AU annotated/OMIM-615574.tab AU annotated/OMIM-615575.tab AU annotated/OMIM-615577.tab AU annotated/OMIM-615578.tab AU annotated/OMIM-615582.tab AU annotated/OMIM-615583.tab AU annotated/OMIM-615589.tab AU annotated/OMIM-615592.tab A annotated/OMIM-615593.tab AU annotated/OMIM-615595.tab AU annotated/OMIM-615596.tab AU annotated/OMIM-615597.tab AU annotated/OMIM-615598.tab AU annotated/OMIM-615599.tab AU annotated/OMIM-615604.tab AU annotated/OMIM-615605.tab AU annotated/OMIM-615607.tab AU annotated/OMIM-615612.tab AU annotated/OMIM-615615.tab AU annotated/OMIM-615616.tab AU annotated/OMIM-615617.tab A annotated/OMIM-615619.tab AU annotated/OMIM-615625.tab AU annotated/OMIM-615629.tab AU annotated/OMIM-615630.tab AU annotated/OMIM-615631.tab AU annotated/OMIM-615632.tab AU annotated/OMIM-615633.tab AU annotated/OMIM-615636.tab AU annotated/OMIM-615637.tab AU annotated/OMIM-615643.tab AU annotated/OMIM-615649.tab AU annotated/OMIM-615651.tab AU annotated/OMIM-615654.tab AU annotated/OMIM-615656.tab AU annotated/OMIM-615658.tab AU annotated/OMIM-615663.tab AU annotated/OMIM-615665.tab AU annotated/OMIM-615668.tab AU annotated/OMIM-615670.tab A annotated/OMIM-615673.tab AU annotated/OMIM-615674.tab A annotated/OMIM-615681.tab A annotated/OMIM-615683.tab A annotated/OMIM-615685.tab A annotated/OMIM-615686.tab AU annotated/OMIM-615688.tab AU annotated/OMIM-615696.tab A annotated/OMIM-615703.tab AU annotated/OMIM-615704.tab AU annotated/OMIM-615705.tab AU annotated/OMIM-615706.tab AU annotated/OMIM-615707.tab AU annotated/OMIM-615709.tab AU annotated/OMIM-615710.tab AU annotated/OMIM-615715.tab AU annotated/OMIM-615716.tab AU annotated/OMIM-615721.tab AU annotated/OMIM-615722.tab AU annotated/OMIM-615723.tab AU annotated/OMIM-615724.tab AU annotated/OMIM-615725.tab A annotated/OMIM-615726.tab A annotated/OMIM-615728.tab AU annotated/OMIM-615731.tab AU annotated/OMIM-615735.tab AU annotated/OMIM-615744.tab AU annotated/OMIM-615745.tab A annotated/OMIM-615749.tab AU annotated/OMIM-615750.tab AU annotated/OMIM-615751.tab A annotated/OMIM-615752.tab AU annotated/OMIM-615758.tab AU annotated/OMIM-615760.tab AU annotated/OMIM-615761.tab AU annotated/OMIM-615763.tab AU annotated/OMIM-615767.tab AU annotated/OMIM-615768.tab AU annotated/OMIM-615770.tab AU annotated/OMIM-615771.tab AU annotated/OMIM-615774.tab AU annotated/OMIM-615777.tab AU annotated/OMIM-615779.tab AU annotated/OMIM-615780.tab AU annotated/OMIM-615785.tab A annotated/OMIM-615789.tab AU annotated/OMIM-615802.tab AU annotated/OMIM-615803.tab AU annotated/OMIM-615807.tab AU annotated/OMIM-615809.tab AU annotated/OMIM-615812.tab AU annotated/OMIM-615816.tab AU annotated/OMIM-615817.tab AU annotated/OMIM-615821.tab AU annotated/OMIM-615824.tab AU annotated/OMIM-615828.tab AU annotated/OMIM-615829.tab AU annotated/OMIM-615830.tab AU annotated/OMIM-615833.tab A annotated/OMIM-615834.tab AU annotated/OMIM-615837.tab AU annotated/OMIM-615838.tab AU annotated/OMIM-615841.tab AU annotated/OMIM-615842.tab AU annotated/OMIM-615846.tab A annotated/OMIM-615848.tab AU annotated/OMIM-615849.tab AU annotated/OMIM-615851.tab AU annotated/OMIM-615859.tab AU annotated/OMIM-615860.tab A annotated/OMIM-615861.tab AU annotated/OMIM-615862.tab AU annotated/OMIM-615863.tab A annotated/OMIM-615866.tab AU annotated/OMIM-615871.tab AU annotated/OMIM-615872.tab AU annotated/OMIM-615873.tab AU annotated/OMIM-615877.tab AU annotated/OMIM-615878.tab AU annotated/OMIM-615879.tab A annotated/OMIM-615881.tab AU annotated/OMIM-615883.tab AU annotated/OMIM-615885.tab AU annotated/OMIM-615887.tab AU annotated/OMIM-615888.tab AU annotated/OMIM-615889.tab A annotated/OMIM-615892.tab AU annotated/OMIM-615895.tab AU annotated/OMIM-615896.tab A annotated/OMIM-615897.tab AU annotated/OMIM-615905.tab AU annotated/OMIM-615907.tab AU annotated/OMIM-615909.tab AU annotated/OMIM-615911.tab AU annotated/OMIM-615916.tab AU annotated/OMIM-615917.tab AU annotated/OMIM-615918.tab AU annotated/OMIM-615919.tab AU annotated/OMIM-615922.tab AU annotated/OMIM-615923.tab AU annotated/OMIM-615924.tab A annotated/OMIM-615925.tab AU annotated/OMIM-615926.tab AU annotated/OMIM-615934.tab AU annotated/OMIM-615935.tab AU annotated/OMIM-615937.tab AU annotated/OMIM-615938.tab AU annotated/OMIM-615942.tab AU annotated/OMIM-615945.tab AU annotated/OMIM-615946.tab AU annotated/OMIM-615947.tab AU annotated/OMIM-615948.tab AU annotated/OMIM-615952.tab AU annotated/OMIM-615954.tab AU annotated/OMIM-615957.tab AU annotated/OMIM-615959.tab AU annotated/OMIM-615960.tab A annotated/OMIM-615961.tab AU annotated/OMIM-615962.tab AU annotated/OMIM-615963.tab AU annotated/OMIM-615966.tab A annotated/OMIM-615969.tab A annotated/OMIM-615970.tab AU annotated/OMIM-615972.tab AU annotated/OMIM-615973.tab A annotated/OMIM-615974.tab A annotated/OMIM-615978.tab AU annotated/OMIM-615979.tab AU annotated/OMIM-615980.tab AU annotated/OMIM-615981.tab AU annotated/OMIM-615982.tab AU annotated/OMIM-615983.tab AU annotated/OMIM-615984.tab AU annotated/OMIM-615985.tab AU annotated/OMIM-615986.tab AU annotated/OMIM-615987.tab AU annotated/OMIM-615988.tab AU annotated/OMIM-615989.tab AU annotated/OMIM-615990.tab AU annotated/OMIM-615991.tab A annotated/OMIM-615992.tab AU annotated/OMIM-615993.tab AU annotated/OMIM-615994.tab AU annotated/OMIM-615995.tab AU annotated/OMIM-615996.tab A annotated/OMIM-616000.tab AU annotated/OMIM-616001.tab AU annotated/OMIM-616002.tab AU annotated/OMIM-616005.tab AU annotated/OMIM-616006.tab AU annotated/OMIM-616007.tab AU annotated/OMIM-616022.tab AU annotated/OMIM-616025.tab AU annotated/OMIM-616026.tab AU annotated/OMIM-616028.tab AU annotated/OMIM-616029.tab AU annotated/OMIM-616030.tab AU annotated/OMIM-616032.tab AU annotated/OMIM-616033.tab AU annotated/OMIM-616034.tab AU annotated/OMIM-616037.tab AU annotated/OMIM-616038.tab AU annotated/OMIM-616039.tab AU annotated/OMIM-616040.tab AU annotated/OMIM-616042.tab A annotated/OMIM-616044.tab AU annotated/OMIM-616045.tab AU annotated/OMIM-616050.tab AU annotated/OMIM-616051.tab AU annotated/OMIM-616052.tab AU annotated/OMIM-616053.tab AU annotated/OMIM-616055.tab AU annotated/OMIM-616056.tab A annotated/OMIM-616059.tab A annotated/OMIM-616063.tab AU annotated/OMIM-616067.tab AU annotated/OMIM-616069.tab AU annotated/OMIM-616078.tab AU annotated/OMIM-616079.tab AU annotated/OMIM-616080.tab AU annotated/OMIM-616081.tab AU annotated/OMIM-616083.tab AU annotated/OMIM-616084.tab A annotated/OMIM-616089.tab AU annotated/OMIM-616094.tab AU annotated/OMIM-616095.tab AU annotated/OMIM-616098.tab AU annotated/OMIM-616099.tab AU annotated/OMIM-616100.tab AU annotated/OMIM-616106.tab AU annotated/OMIM-616108.tab AU annotated/OMIM-616111.tab AU annotated/OMIM-616113.tab AU annotated/OMIM-616115.tab AU annotated/OMIM-616116.tab A annotated/OMIM-616117.tab AU annotated/OMIM-616118.tab AU annotated/OMIM-616126.tab AU annotated/OMIM-616127.tab AU annotated/OMIM-616138.tab AU annotated/OMIM-616139.tab AU annotated/OMIM-616140.tab AU annotated/OMIM-616145.tab A annotated/OMIM-616151.tab A annotated/OMIM-616152.tab AU annotated/OMIM-616154.tab AU annotated/OMIM-616155.tab AU annotated/OMIM-616158.tab AU annotated/OMIM-616165.tab AU annotated/OMIM-616166.tab AU annotated/OMIM-616170.tab AU 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annotated/OMIM-616395.tab AU annotated/OMIM-616398.tab AU annotated/OMIM-616399.tab AU annotated/OMIM-616400.tab AU annotated/OMIM-616402.tab A annotated/OMIM-616407.tab AU annotated/OMIM-616409.tab AU annotated/OMIM-616410.tab AU annotated/OMIM-616411.tab AU annotated/OMIM-616413.tab AU annotated/OMIM-616414.tab AU annotated/OMIM-616415.tab AU annotated/OMIM-616418.tab AU annotated/OMIM-616420.tab AU annotated/OMIM-616421.tab AU annotated/OMIM-616425.tab AU annotated/OMIM-616428.tab AU annotated/OMIM-616430.tab AU annotated/OMIM-616433.tab AU annotated/OMIM-616435.tab A annotated/OMIM-616436.tab AU annotated/OMIM-616437.tab AU annotated/OMIM-616439.tab AU annotated/OMIM-616445.tab AU annotated/OMIM-616449.tab AU annotated/OMIM-616451.tab AU annotated/OMIM-616452.tab AU annotated/OMIM-616455.tab AU annotated/OMIM-616457.tab AU annotated/OMIM-616459.tab AU annotated/OMIM-616460.tab AU annotated/OMIM-616461.tab AU annotated/OMIM-616462.tab AU annotated/OMIM-616468.tab AU annotated/OMIM-616469.tab A annotated/OMIM-616470.tab A annotated/OMIM-616471.tab AU annotated/OMIM-616479.tab AU annotated/OMIM-616481.tab AU annotated/OMIM-616482.tab A annotated/OMIM-616483.tab AU annotated/OMIM-616486.tab AU annotated/OMIM-616487.tab AU annotated/OMIM-616488.tab AU annotated/OMIM-616489.tab AU annotated/OMIM-616490.tab AU annotated/OMIM-616491.tab AU annotated/OMIM-616494.tab AU annotated/OMIM-616500.tab AU annotated/OMIM-616501.tab AU annotated/OMIM-616502.tab AU annotated/OMIM-616503.tab AU annotated/OMIM-616505.tab AU annotated/OMIM-616507.tab AU annotated/OMIM-616509.tab AU annotated/OMIM-616511.tab A annotated/OMIM-616515.tab AU annotated/OMIM-616516.tab AU annotated/OMIM-616517.tab AU annotated/OMIM-616521.tab AU annotated/OMIM-616531.tab AU annotated/OMIM-616532.tab A annotated/OMIM-616534.tab A annotated/OMIM-616535.tab AU annotated/OMIM-616538.tab AU annotated/OMIM-616539.tab AU annotated/OMIM-616540.tab AU annotated/OMIM-616541.tab AU annotated/OMIM-616544.tab AU annotated/OMIM-616546.tab AU annotated/OMIM-616549.tab AU annotated/OMIM-616553.tab AU annotated/OMIM-616559.tab AU annotated/OMIM-616562.tab AU annotated/OMIM-616564.tab AU annotated/OMIM-616566.tab A annotated/OMIM-616568.tab AU annotated/OMIM-616570.tab AU annotated/OMIM-616576.tab AU annotated/OMIM-616577.tab AU annotated/OMIM-616579.tab AU annotated/OMIM-616580.tab AU annotated/OMIM-616583.tab AU annotated/OMIM-616586.tab AU annotated/OMIM-616589.tab AU annotated/OMIM-616592.tab AU annotated/OMIM-616602.tab AU annotated/OMIM-616603.tab AU annotated/OMIM-616604.tab AU annotated/OMIM-616606.tab AU annotated/OMIM-616617.tab A annotated/OMIM-616622.tab AU annotated/OMIM-616625.tab AU annotated/OMIM-616629.tab AU annotated/OMIM-616632.tab AU annotated/OMIM-616636.tab A annotated/OMIM-616638.tab A annotated/OMIM-616640.tab A annotated/OMIM-616645.tab A annotated/OMIM-616647.tab A annotated/OMIM-616648.tab AU annotated/OMIM-616649.tab AU 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annotated/OMIM-617296.tab A annotated/OMIM-617297.tab A annotated/OMIM-617300.tab A annotated/OMIM-617301.tab A annotated/OMIM-617302.tab A annotated/OMIM-617303.tab A annotated/OMIM-617304.tab A annotated/OMIM-617306.tab A annotated/OMIM-617308.tab A annotated/OMIM-617315.tab A annotated/OMIM-617319.tab A annotated/OMIM-617320.tab A annotated/OMIM-617321.tab A annotated/OMIM-617323.tab A annotated/OMIM-617330.tab A annotated/OMIM-617333.tab A annotated/OMIM-617336.tab A annotated/OMIM-617337.tab A annotated/OMIM-617339.tab A annotated/OMIM-617341.tab A annotated/OMIM-617343.tab A annotated/OMIM-617349.tab A annotated/OMIM-617350.tab A annotated/OMIM-617360.tab A annotated/OMIM-617364.tab A annotated/OMIM-617370.tab A annotated/OMIM-617383.tab A annotated/OMIM-617384.tab A annotated/OMIM-617388.tab A annotated/OMIM-617389.tab A annotated/OMIM-617391.tab A annotated/OMIM-617392.tab A annotated/OMIM-617393.tab A annotated/OMIM-617394.tab A annotated/OMIM-617395.tab A annotated/OMIM-617396.tab A annotated/OMIM-617397.tab A annotated/OMIM-617402.tab A annotated/OMIM-617404.tab A annotated/OMIM-617405.tab A annotated/OMIM-617406.tab A annotated/OMIM-617408.tab A annotated/OMIM-617409.tab A annotated/OMIM-617412.tab A annotated/OMIM-617425.tab A annotated/OMIM-617432.tab A annotated/OMIM-617433.tab A annotated/OMIM-617439.tab A annotated/OMIM-617441.tab A annotated/OMIM-617442.tab A annotated/OMIM-617450.tab A annotated/OMIM-617452.tab A annotated/OMIM-617460.tab A annotated/OMIM-617466.tab A annotated/OMIM-617468.tab A annotated/OMIM-617478.tab A annotated/OMIM-617506.tab A annotated/OMIM-617526.tab A annotated/OMIM-617537.tab A ignore_for_annotation.txt A misc A misc/.gitignore A misc/cataract A misc/cataract/MIM-107250.tab A misc/cataract/MIM-115650.tab A misc/cataract/MIM-115665.tab A misc/cataract/MIM-116600.tab A misc/cataract/MIM-116800.tab A misc/cataract/MIM-123680.tab A misc/cataract/MIM-123730.tab A misc/cataract/MIM-154050.tab A misc/cataract/MIM-600897.tab A misc/cataract/MIM-601885.tab A misc/cataract/MIM-604307.tab A misc/cataract/MIM-607304.tab A misc/cataract/MIM-608810-AR.tab A misc/cataract/MIM-608810.tab A misc/cataract/MIM-610634.tab A misc/cataract/MIM-611597.tab A misc/excelfiles A misc/excelfiles/Analysis_Table.xls A misc/excelfiles/Analysis_Table_NEW_13-09-11.xls A misc/excelfiles/Analysis_novel_18-09-11.xls A misc/excelfiles/Prioritized DECIPHER_for_Annotation.xls A misc/excelfiles/Prioritized-Disease-List.xls A misc/excelfiles/candidates_alpha-3.xls A misc/helpscripts A misc/helpscripts/fixDate.pl A misc/jarFiles A misc/jarFiles/generateAnnotationFile.jar A misc/makefile A misc/phenote A misc/phenote/hpo.cfg A omim-genes A omim-genes/OMIM-100640.tab AU omim-genes/OMIM-100650.tab A omim-genes/OMIM-100675.tab At revision 4738 [workspace] $ /bin/sh -xe /tmp/hudson7807607552304103071.sh + make -C misc make: Entering directory '/var/lib/jenkins/jobs/hpo.annotations/workspace/misc' mkdir -p data # load orphanet data wget -N -P data http://www.orphadata.org/data/xml/en_product4_HPO.xml --2017-10-05 11:39:15-- http://www.orphadata.org/data/xml/en_product4_HPO.xml Resolving proxy.charite.de (proxy.charite.de)... 141.42.1.215 Connecting to proxy.charite.de (proxy.charite.de)|141.42.1.215|:8080... connected. Proxy request sent, awaiting response... 200 OK Length: 24502882 (23M) [text/xml] Saving to: ‘data/en_product4_HPO.xml’ 0K .......... .......... .......... .......... .......... 0% 475K 50s 50K .......... .......... .......... .......... .......... 0% 1.08M 36s 100K .......... .......... .......... .......... .......... 0% 10.7M 25s 150K .......... .......... .......... .......... .......... 0% 973K 24s 200K .......... .......... .......... .......... .......... 1% 1.16M 24s 250K .......... .......... .......... .......... .......... 1% 15.8M 20s 300K .......... .......... .......... .......... .......... 1% 1.13M 20s 350K .......... .......... .......... .......... .......... 1% 13.8M 18s 400K .......... .......... .......... .......... .......... 1% 14.6M 16s 450K .......... .......... .......... .......... .......... 2% 1.38M 16s 500K .......... .......... .......... .......... .......... 2% 26.9M 14s 550K .......... .......... .......... .......... .......... 2% 11.4M 13s 600K 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.......... 5% 11.6M 8s 1300K .......... .......... .......... .......... .......... 5% 1.57M 8s 1350K .......... .......... .......... .......... .......... 5% 6.87M 8s 1400K .......... .......... .......... .......... .......... 6% 22.5M 8s 1450K .......... .......... .......... .......... .......... 6% 14.7M 8s 1500K .......... .......... .......... .......... .......... 6% 22.4M 7s 1550K .......... .......... .......... .......... .......... 6% 12.5M 7s 1600K .......... .......... .......... .......... .......... 6% 18.9M 7s 1650K .......... .......... .......... .......... .......... 7% 1.71M 7s 1700K .......... .......... .......... .......... .......... 7% 16.4M 7s 1750K .......... .......... .......... .......... .......... 7% 11.6M 7s 1800K .......... .......... .......... .......... .......... 7% 20.0M 7s 1850K .......... .......... .......... .......... .......... 7% 14.6M 7s 1900K .......... .......... .......... .......... .......... 8% 41.2M 6s 1950K .......... .......... .......... .......... .......... 8% 15.7M 6s 2000K .......... .......... .......... .......... .......... 8% 26.0M 6s 2050K .......... .......... .......... .......... .......... 8% 1.70M 6s 2100K .......... .......... .......... .......... .......... 8% 117M 6s 2150K .......... .......... .......... .......... .......... 9% 12.0M 6s 2200K .......... .......... .......... .......... .......... 9% 27.4M 6s 2250K .......... .......... .......... .......... .......... 9% 19.6M 6s 2300K .......... .......... .......... .......... .......... 9% 22.0M 6s 2350K .......... .......... .......... .......... .......... 10% 13.4M 6s 2400K .......... .......... .......... .......... .......... 10% 29.9M 5s 2450K .......... .......... .......... .......... .......... 10% 20.4M 5s 2500K .......... .......... .......... .......... .......... 10% 19.0M 5s 2550K .......... .......... .......... .......... .......... 10% 2.03M 5s 2600K .......... .......... .......... .......... .......... 11% 30.1M 5s 2650K .......... .......... .......... .......... .......... 11% 25.1M 5s 2700K .......... .......... .......... .......... .......... 11% 22.5M 5s 2750K .......... .......... .......... .......... .......... 11% 30.7M 5s 2800K .......... .......... .......... .......... .......... 11% 24.3M 5s 2850K .......... .......... .......... .......... .......... 12% 33.8M 5s 2900K .......... .......... .......... .......... .......... 12% 111M 5s 2950K .......... .......... .......... .......... .......... 12% 47.5M 5s 3000K .......... .......... .......... .......... .......... 12% 113M 5s 3050K .......... .......... .......... .......... .......... 12% 113M 4s 3100K .......... .......... .......... .......... .......... 13% 1.80M 5s 3150K .......... .......... .......... .......... .......... 13% 49.9M 4s 3200K .......... .......... .......... .......... .......... 13% 16.6M 4s 3250K .......... .......... .......... .......... .......... 13% 32.5M 4s 3300K .......... .......... .......... .......... .......... 13% 30.0M 4s 3350K .......... .......... .......... .......... .......... 14% 36.3M 4s 3400K .......... .......... .......... .......... .......... 14% 43.4M 4s 3450K .......... .......... .......... .......... .......... 14% 53.9M 4s 3500K .......... .......... .......... .......... .......... 14% 45.3M 4s 3550K .......... .......... .......... .......... .......... 15% 53.1M 4s 3600K .......... .......... .......... .......... .......... 15% 33.8M 4s 3650K .......... .......... .......... .......... .......... 15% 44.5M 4s 3700K .......... .......... .......... .......... .......... 15% 39.5M 4s 3750K .......... .......... .......... .......... .......... 15% 38.4M 4s 3800K .......... .......... .......... .......... .......... 16% 1.46M 4s 3850K .......... .......... .......... .......... .......... 16% 23.8M 4s 3900K .......... .......... .......... .......... .......... 16% 75.2M 4s 3950K .......... .......... .......... .......... .......... 16% 42.8M 4s 4000K .......... .......... .......... .......... .......... 16% 42.6M 4s 4050K .......... .......... .......... .......... .......... 17% 40.0M 4s 4100K .......... .......... .......... .......... .......... 17% 42.0M 4s 4150K .......... .......... .......... .......... .......... 17% 24.3M 4s 4200K .......... .......... .......... .......... .......... 17% 33.9M 3s 4250K .......... .......... .......... .......... .......... 17% 113M 3s 4300K .......... .......... .......... .......... .......... 18% 101M 3s 4350K .......... .......... .......... .......... .......... 18% 49.2M 3s 4400K .......... .......... .......... .......... .......... 18% 33.3M 3s 4450K .......... .......... .......... .......... .......... 18% 38.4M 3s 4500K .......... .......... .......... .......... .......... 19% 1.99M 3s 4550K .......... .......... .......... .......... .......... 19% 9.81M 3s 4600K .......... .......... .......... .......... .......... 19% 22.9M 3s 4650K .......... .......... .......... .......... .......... 19% 39.1M 3s 4700K .......... .......... .......... .......... .......... 19% 85.0M 3s 4750K .......... .......... .......... .......... .......... 20% 47.9M 3s 4800K .......... .......... .......... .......... .......... 20% 37.3M 3s 4850K .......... .......... .......... .......... .......... 20% 25.0M 3s 4900K .......... .......... .......... .......... .......... 20% 56.9M 3s 4950K .......... .......... .......... .......... .......... 20% 59.4M 3s 5000K .......... .......... .......... .......... .......... 21% 38.8M 3s 5050K .......... .......... .......... .......... .......... 21% 19.9M 3s 5100K .......... .......... .......... .......... .......... 21% 41.3M 3s 5150K .......... .......... .......... .......... .......... 21% 26.3M 3s 5200K .......... .......... .......... .......... .......... 21% 53.4M 3s 5250K .......... .......... .......... .......... .......... 22% 50.2M 3s 5300K .......... .......... .......... .......... .......... 22% 58.6M 3s 5350K .......... .......... .......... .......... .......... 22% 2.19M 3s 5400K .......... .......... .......... .......... .......... 22% 19.9M 3s 5450K .......... .......... .......... .......... .......... 22% 51.5M 3s 5500K .......... .......... .......... .......... .......... 23% 44.3M 3s 5550K .......... .......... .......... .......... .......... 23% 19.7M 3s 5600K .......... .......... .......... .......... .......... 23% 37.1M 3s 5650K .......... .......... .......... .......... .......... 23% 98.4M 3s 5700K .......... .......... .......... .......... .......... 24% 47.0M 3s 5750K .......... .......... .......... .......... .......... 24% 58.7M 3s 5800K .......... .......... .......... .......... .......... 24% 30.4M 3s 5850K .......... .......... .......... .......... .......... 24% 76.8M 3s 5900K .......... .......... .......... .......... .......... 24% 103M 3s 5950K .......... .......... .......... .......... .......... 25% 45.9M 3s 6000K .......... .......... .......... .......... .......... 25% 46.8M 2s 6050K .......... .......... .......... .......... .......... 25% 42.6M 2s 6100K .......... .......... .......... .......... .......... 25% 60.9M 2s 6150K .......... .......... .......... .......... .......... 25% 35.7M 2s 6200K .......... .......... .......... .......... .......... 26% 55.3M 2s 6250K .......... .......... .......... .......... .......... 26% 1.91M 2s 6300K .......... .......... .......... .......... .......... 26% 2.66M 2s 6350K .......... .......... .......... .......... .......... 26% 40.8M 2s 6400K .......... .......... .......... .......... .......... 26% 46.6M 2s 6450K .......... .......... .......... .......... .......... 27% 8.93M 2s 6500K .......... .......... .......... .......... .......... 27% 18.0M 2s 6550K .......... .......... .......... .......... .......... 27% 78.3M 2s 6600K .......... .......... .......... .......... .......... 27% 110M 2s 6650K .......... .......... .......... .......... .......... 27% 114M 2s 6700K .......... .......... .......... .......... .......... 28% 84.5M 2s 6750K .......... .......... .......... .......... .......... 28% 116M 2s 6800K .......... .......... .......... .......... .......... 28% 49.8M 2s 6850K .......... .......... .......... .......... .......... 28% 83.7M 2s 6900K .......... .......... .......... .......... .......... 29% 113M 2s 6950K .......... .......... .......... .......... .......... 29% 113M 2s 7000K .......... .......... .......... .......... .......... 29% 113M 2s 7050K .......... .......... .......... .......... .......... 29% 110M 2s 7100K .......... .......... .......... .......... .......... 29% 101M 2s 7150K .......... .......... .......... .......... .......... 30% 98.4M 2s 7200K .......... .......... .......... .......... .......... 30% 4.49M 2s 7250K .......... .......... .......... .......... .......... 30% 5.64M 2s 7300K .......... .......... .......... .......... .......... 30% 51.8M 2s 7350K .......... .......... .......... .......... .......... 30% 97.1M 2s 7400K .......... .......... .......... .......... .......... 31% 33.3M 2s 7450K .......... .......... .......... .......... .......... 31% 99.4M 2s 7500K .......... .......... .......... .......... .......... 31% 23.8M 2s 7550K .......... .......... .......... .......... .......... 31% 26.4M 2s 7600K .......... .......... .......... .......... .......... 31% 84.0M 2s 7650K .......... .......... .......... .......... .......... 32% 25.9M 2s 7700K .......... .......... .......... .......... .......... 32% 4.70M 2s 7750K .......... .......... .......... .......... .......... 32% 37.4M 2s 7800K .......... .......... .......... .......... .......... 32% 65.9M 2s 7850K .......... .......... .......... .......... .......... 33% 26.3M 2s 7900K .......... .......... .......... .......... .......... 33% 24.0M 2s 7950K .......... .......... .......... .......... .......... 33% 81.1M 2s 8000K .......... .......... .......... .......... .......... 33% 45.2M 2s 8050K .......... .......... .......... .......... .......... 33% 25.5M 2s 8100K .......... .......... .......... .......... .......... 34% 22.4M 2s 8150K .......... .......... .......... .......... .......... 34% 35.3M 2s 8200K .......... .......... .......... .......... .......... 34% 4.67M 2s 8250K .......... .......... .......... .......... .......... 34% 15.7M 2s 8300K .......... .......... .......... .......... .......... 34% 47.6M 2s 8350K .......... .......... .......... .......... .......... 35% 41.7M 2s 8400K .......... .......... .......... .......... .......... 35% 23.6M 2s 8450K .......... .......... .......... .......... .......... 35% 30.4M 2s 8500K .......... .......... .......... .......... .......... 35% 110M 2s 8550K .......... .......... .......... .......... .......... 35% 42.5M 2s 8600K .......... .......... .......... .......... .......... 36% 36.0M 2s 8650K .......... .......... .......... .......... .......... 36% 58.4M 2s 8700K .......... .......... .......... 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.......... 44% 38.2M 1s 10750K .......... .......... .......... .......... .......... 45% 40.3M 1s 10800K .......... .......... .......... .......... .......... 45% 22.8M 1s 10850K .......... .......... .......... .......... .......... 45% 22.1M 1s 10900K .......... .......... .......... .......... .......... 45% 41.1M 1s 10950K .......... .......... .......... .......... .......... 45% 36.9M 1s 11000K .......... .......... .......... .......... .......... 46% 19.3M 1s 11050K .......... .......... .......... .......... .......... 46% 30.0M 1s 11100K .......... .......... .......... .......... .......... 46% 21.7M 1s 11150K .......... .......... .......... .......... .......... 46% 18.6M 1s 11200K .......... .......... .......... .......... .......... 47% 113M 1s 11250K .......... .......... .......... .......... .......... 47% 14.0M 1s 11300K .......... .......... .......... .......... .......... 47% 17.8M 1s 11350K .......... .......... .......... .......... .......... 47% 10.3M 1s 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.......... .......... 53% 42.1M 1s 12750K .......... .......... .......... .......... .......... 53% 97.6M 1s 12800K .......... .......... .......... .......... .......... 53% 25.6M 1s 12850K .......... .......... .......... .......... .......... 53% 30.7M 1s 12900K .......... .......... .......... .......... .......... 54% 26.3M 1s 12950K .......... .......... .......... .......... .......... 54% 35.1M 1s 13000K .......... .......... .......... .......... .......... 54% 75.9M 1s 13050K .......... .......... .......... .......... .......... 54% 26.7M 1s 13100K .......... .......... .......... .......... .......... 54% 25.8M 1s 13150K .......... .......... .......... .......... .......... 55% 22.7M 1s 13200K .......... .......... .......... .......... .......... 55% 43.1M 1s 13250K .......... .......... .......... .......... .......... 55% 42.3M 1s 13300K .......... .......... .......... .......... .......... 55% 114M 1s 13350K .......... .......... .......... .......... .......... 55% 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--2017-10-05 11:39:17-- http://purl.obolibrary.org/obo/hp.obo Resolving proxy.charite.de (proxy.charite.de)... 141.42.1.215 Connecting to proxy.charite.de (proxy.charite.de)|141.42.1.215|:8080... connected. Proxy request sent, awaiting response... 302 Found Location: https://raw.githubusercontent.com/obophenotype/human-phenotype-ontology/master/hp.obo [following] --2017-10-05 11:39:17-- https://raw.githubusercontent.com/obophenotype/human-phenotype-ontology/master/hp.obo Connecting to proxy.charite.de (proxy.charite.de)|141.42.1.215|:8080... connected. Proxy request sent, awaiting response... 200 OK Length: 5685945 (5.4M) [text/plain] Saving to: ‘data/hp.obo’ 0K .......... .......... .......... .......... .......... 0% 1.85M 3s 50K .......... .......... .......... .......... .......... 1% 4.97M 2s 100K .......... .......... .......... .......... .......... 2% 4.29M 2s 150K .......... .......... .......... .......... .......... 3% 2.97M 2s 200K .......... .......... .......... .......... .......... 4% 3.62M 2s 250K .......... .......... .......... .......... .......... 5% 6.04M 1s 300K .......... .......... .......... .......... .......... 6% 5.05M 1s 350K .......... .......... .......... .......... .......... 7% 4.90M 1s 400K .......... .......... .......... .......... .......... 8% 6.31M 1s 450K .......... .......... .......... .......... .......... 9% 5.75M 1s 500K .......... .......... .......... .......... .......... 9% 4.95M 1s 550K .......... .......... .......... .......... .......... 10% 6.59M 1s 600K .......... .......... 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.......... .......... 84% 7.09M 0s 4700K .......... .......... .......... .......... .......... 85% 34.8M 0s 4750K .......... .......... .......... .......... .......... 86% 47.2M 0s 4800K .......... .......... .......... .......... .......... 87% 53.7M 0s 4850K .......... .......... .......... .......... .......... 88% 18.8M 0s 4900K .......... .......... .......... .......... .......... 89% 10.6M 0s 4950K .......... .......... .......... .......... .......... 90% 10.8M 0s 5000K .......... .......... .......... .......... .......... 90% 34.0M 0s 5050K .......... .......... .......... .......... .......... 91% 31.4M 0s 5100K .......... .......... .......... .......... .......... 92% 17.5M 0s 5150K .......... .......... .......... .......... .......... 93% 22.2M 0s 5200K .......... .......... .......... .......... .......... 94% 111M 0s 5250K .......... .......... .......... .......... .......... 95% 37.7M 0s 5300K .......... .......... .......... .......... .......... 96% 24.2M 0s 5350K .......... .......... .......... .......... .......... 97% 34.7M 0s 5400K .......... .......... .......... .......... .......... 98% 23.9M 0s 5450K .......... .......... .......... .......... .......... 99% 7.42M 0s 5500K .......... .......... .......... .......... .......... 99% 110M 0s 5550K .. 100% 54.3M=0.6s Last-modified header missing -- time-stamps turned off. 2017-10-05 11:39:18 (9.03 MB/s) - ‘data/hp.obo’ saved [5685945/5685945] java -Xmx1G -jar jarFiles/generateAnnotationFile.jar --orphadata "data/en_product4_HPO.xml" --out-folder "." --hpo_ontology "data/hp.obo" --berkeley-annotated "../annotated/" --only-before "01-01-2016" parse: data/hp.obo Oct 05, 2017 11:39:19 AM ontologizer.go.OBOParser doParse INFO: Got 13156 terms and 16794 relations in 155 ms Details of parsed obo file: data-version: releases/2017-10-05 format: 1.2 term definitions: 13156 Oct 05, 2017 11:39:19 AM ontologizer.go.Ontology assignLevel1TermsAndFixRoot INFO: Ontology contains a single level-one term (All (HP:0000001) Oct 05, 2017 11:39:19 AM ontologizer.go.Ontology assignLevel1TermsAndFixRoot INFO: Ontology contains a single level-one term (Phenotypic abnormality (HP:0000118) /var/lib/jenkins/jobs/hpo.annotations/workspace/misc/../annotated . ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615763 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:615763 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:607539 CAMPTOSYNPOLYDACTYLY, COMPLEX HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:607539 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:607539 CAMPTOSYNPOLYDACTYLY, COMPLEX HP:0012725 Cutaneous syndactyly IEA IEA OMIM-CS:skeletalfeet > CUTANEOUS SYNDACTYLY OMIM:607539 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:607539 CAMPTOSYNPOLYDACTYLY, COMPLEX HP:0012385 Camptodactyly IEA IEA OMIM-CS:skeletalhands > CAMPTODACTYLY OMIM:607539 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:607539 CAMPTOSYNPOLYDACTYLY, COMPLEX HP:0010442 Polydactyly IEA IEA OMIM-CS:skeletalhands > POLYDACTYLY OMIM:607539 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:607539 CAMPTOSYNPOLYDACTYLY, COMPLEX HP:0001159 Syndactyly IEA IEA OMIM-CS:skeletalhands > SYNDACTYLY OMIM:607539 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:607539 CAMPTOSYNPOLYDACTYLY, COMPLEX HP:0002164 Nail dysplasia IEA IEA OMIM-CS:skinnailshairnails > DYSPLASTIC NAILS OMIM:607539 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:607539 CAMPTOSYNPOLYDACTYLY, COMPLEX HP:0100797 Toenail dysplasia IEA IEA OMIM-CS:skinnailshairnails > DYSPLASTIC TOENAILS OMIM:607539 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:607539 CAMPTOSYNPOLYDACTYLY, COMPLEX HP:0001792 Small nail IEA IEA OMIM-CS:skinnailshairnails > HYPOPLASTIC NAILS OMIM:607539 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616505 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA (PATIENT A) OMIM:616505 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:252010 MITOCHONDRIAL COMPLEX I DEFICIENCY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:252010 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:252010 MITOCHONDRIAL COMPLEX I DEFICIENCY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:252010 HPO:skoehler 13.07.2017 ........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:180100 RETINITIS PIGMENTOSA 1 HP:0000545 Myopia IEA IEA MODIFIER:MODERATE;OMIM-CS:headandneckeyes > MYOPIA, MODERATE OMIM:180100 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:180100 RETINITIS PIGMENTOSA 1 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:180100 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:180100 RETINITIS PIGMENTOSA 1 HP:0001425 Heterogeneous IEA IEA OMIM-CS:miscellaneous > GENETIC HETEROGENEITY (SEE OMIM:180100 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:258850 OROFACIODIGITAL SYNDROME III HP:0010297 Bifid tongue IEA IEA OMIM-CS:headandneckmouth > CLEFT TONGUE OMIM:258850 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0001634 Mitral valve prolapse IEA IEA OMIM-CS:cardiovascularheart > MITRAL VALVE PROLAPSE (PATIENT A) OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0001629 Ventricular septal defect IEA IEA rare OMIM-CS:cardiovascularheart > VENTRICULAR SEPTAL DEFECT (IN SOME PATIENTS) OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0002619 Varicose veins IEA IEA OMIM-CS:cardiovascularvascular > VARICOSE VEINS, SEVERE (PATIENT A) OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0000107 Renal cyst IEA IEA rare OMIM-CS:genitourinarykidneys > CYSTIC KIDNEYS (1 PATIENT) OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0000110 Renal dysplasia IEA IEA rare OMIM-CS:genitourinarykidneys > DYSPLASTIC KIDNEYS (1 PATIENT) OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0004712 Renal malrotation IEA IEA OMIM-CS:genitourinarykidneys > RENAL MALROTATION OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0030037 Bifid ureter IEA IEA OMIM-CS:genitourinaryureters > BIFID URETER (PATIENT A) OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0000098 Tall stature IEA IEA OMIM-CS:growthheight > TALL STATURE OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0001520 Large for gestational age IEA IEA OMIM-CS:growthother > MACROSOMIA OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0001548 Overgrowth IEA IEA OMIM-CS:growthother > OVERGROWTH OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0000400 Macrotia IEA IEA OMIM-CS:headandneckears > LARGE EARS (PATIENT A) OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0000407 Sensorineural hearing impairment IEA IEA rare OMIM-CS:headandneckears > SENSORINEURAL HEARING LOSS (1 PATIENT) OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0000589 Coloboma IEA IEA OMIM-CS:headandneckeyes > COLOBOMA (PATIENT A) OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0000490 Deeply set eye IEA IEA OMIM-CS:headandneckeyes > DEEP-SET EYES OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0000494 Downslanted palpebral fissures IEA IEA OMIM-CS:headandneckeyes > DOWNSLANTING PALPEBRAL FISSURES (PATIENT A) OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0000286 Epicanthus IEA IEA OMIM-CS:headandneckeyes > EPICANTHAL FOLDS OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0000316 Hypertelorism IEA IEA OMIM-CS:headandneckeyes > HYPERTELORISM OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0000486 Strabismus IEA IEA OMIM-CS:headandneckeyes > STRABISMUS OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0011800 Midface retrusion IEA IEA OMIM-CS:headandneckface > FLAT MIDFACE OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0000311 Round face IEA IEA OMIM-CS:headandneckface > ROUND FACE OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0000256 Macrocephaly IEA IEA rare OMIM-CS:headandneckhead > MACROCEPHALY (IN SOME PATIENTS) OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0000158 Macroglossia IEA IEA OMIM-CS:headandneckmouth > MACROGLOSSIA (PATIENT A) OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0012471 Thick vermilion border IEA IEA OMIM-CS:headandneckmouth > THICK LIPS OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0002667 Nephroblastoma IEA IEA rare OMIM-CS:neoplasia > WILMS TUMOR (1 PATIENT) OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT, MILD OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0001256 Intellectual disability, mild IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, MILD OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0001763 Pes planus IEA IEA rare OMIM-CS:skeletalfeet > FLAT FEET (1 PATIENT) OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0001833 Long foot IEA IEA OMIM-CS:skeletalfeet > LARGE FEET (PATIENT A) OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0001847 Long hallux IEA IEA OMIM-CS:skeletalfeet > LARGE HALLUCES (PATIENT A) OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0001176 Large hands IEA IEA OMIM-CS:skeletalhands > LARGE HANDS (PATIENT A) OMIM:617107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617107 THAUVIN-ROBINET-FAIVRE SYNDROME HP:0002979 Bowing of the legs IEA IEA rare OMIM-CS:skeletallimbs > BOWING OF THE LEGS (1 PATIENT) OMIM:617107 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:277410 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:277410 HPO:skoehler 13.07.2017 .............filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254940 CAREY-FINEMAN-ZITER SYNDROME HP:0011968 Feeding difficulties IEA IEA OMIM-CS:abdomengastrointestinal > FEEDING DIFFICULTIES OMIM:254940 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254940 CAREY-FINEMAN-ZITER SYNDROME HP:0002020 Gastroesophageal reflux IEA IEA OMIM-CS:abdomengastrointestinal > GASTROESOPHAGEAL REFLUX OMIM:254940 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254940 CAREY-FINEMAN-ZITER SYNDROME HP:0002015 Dysphagia IEA IEA OMIM-CS:abdomengastrointestinal > POOR SWALLOWING OMIM:254940 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254940 CAREY-FINEMAN-ZITER SYNDROME HP:0001671 Abnormality of the cardiac septa IEA IEA OMIM-CS:cardiovascularheart > SEPTAL DEFECTS OMIM:254940 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254940 CAREY-FINEMAN-ZITER SYNDROME HP:0000494 Downslanted palpebral fissures IEA IEA OMIM-CS:headandneckeyes > DOWNSLANTING PALPEBRAL FISSURES OMIM:254940 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254940 CAREY-FINEMAN-ZITER SYNDROME HP:0000286 Epicanthus IEA IEA OMIM-CS:headandneckeyes > EPICANTHAL FOLDS OMIM:254940 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254940 CAREY-FINEMAN-ZITER SYNDROME HP:0012246 Oculomotor nerve palsy IEA IEA OMIM-CS:headandneckeyes > OCULOMOTOR NERVE PALSY OMIM:254940 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254940 CAREY-FINEMAN-ZITER SYNDROME HP:0000602 Ophthalmoplegia IEA IEA OMIM-CS:headandneckeyes > OPHTHALMOPLEGIA OMIM:254940 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254940 CAREY-FINEMAN-ZITER SYNDROME HP:0000508 Ptosis IEA IEA OMIM-CS:headandneckeyes > PTOSIS OMIM:254940 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254940 CAREY-FINEMAN-ZITER SYNDROME HP:0010628 Facial palsy IEA IEA OMIM-CS:headandneckface > FACIAL MUSCLE WEAKNESS OMIM:254940 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254940 CAREY-FINEMAN-ZITER SYNDROME HP:0010628 Facial palsy IEA IEA OMIM-CS:headandneckface > FACIAL PALSY OMIM:254940 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254940 CAREY-FINEMAN-ZITER SYNDROME HP:0000278 Retrognathia IEA IEA OMIM-CS:headandneckface > RETROGNATHIA OMIM:254940 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254940 CAREY-FINEMAN-ZITER SYNDROME HP:0000256 Macrocephaly IEA IEA OMIM-CS:headandneckhead > MACROCEPHALY OMIM:254940 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254940 CAREY-FINEMAN-ZITER SYNDROME HP:0000252 Microcephaly IEA IEA OMIM-CS:headandneckhead > MICROCEPHALY OMIM:254940 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254940 CAREY-FINEMAN-ZITER SYNDROME HP:0001357 Plagiocephaly IEA IEA OMIM-CS:headandneckhead > PLAGIOCEPHALY OMIM:254940 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254940 CAREY-FINEMAN-ZITER SYNDROME HP:0000211 Trismus IEA IEA OMIM-CS:headandneckmouth > LIMITED MOUTH OPENING OMIM:254940 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254940 CAREY-FINEMAN-ZITER SYNDROME HP:0005280 Depressed nasal bridge IEA IEA OMIM-CS:headandnecknose > FLAT NASAL ROOT OMIM:254940 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254940 CAREY-FINEMAN-ZITER SYNDROME HP:0000463 Anteverted nares IEA IEA OMIM-CS:headandnecknose > UPTURNED NOSE OMIM:254940 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254940 CAREY-FINEMAN-ZITER SYNDROME HP:0006829 Severe muscular hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA, SEVERE OMIM:254940 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254940 CAREY-FINEMAN-ZITER SYNDROME HP:0001263 Global developmental delay IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > DELAYED DEVELOPMENT (IN SOME PATIENTS) OMIM:254940 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254940 CAREY-FINEMAN-ZITER SYNDROME HP:0002119 Ventriculomegaly IEA IEA OMIM-CS:neurologiccentralnervoussystem > ENLARGED VENTRICLES OMIM:254940 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254940 CAREY-FINEMAN-ZITER SYNDROME HP:0001249 Intellectual disability IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY (IN SOME PATIENTS) OMIM:254940 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254940 CAREY-FINEMAN-ZITER SYNDROME HP:0002365 Hypoplasia of the brainstem IEA IEA OMIM-CS:neurologiccentralnervoussystem > SMALL BRAINSTEM OMIM:254940 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254940 CAREY-FINEMAN-ZITER SYNDROME HP:0001558 Decreased fetal movement IEA IEA OMIM-CS:prenatalmanifestationsmovement > DECREASED FETAL MOVEMENTS OMIM:254940 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254940 CAREY-FINEMAN-ZITER SYNDROME HP:0002093 Respiratory insufficiency IEA IEA OMIM-CS:respiratory > RESPIRATORY INSUFFICIENCY OMIM:254940 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254940 CAREY-FINEMAN-ZITER SYNDROME HP:0001371 Flexion contracture IEA IEA OMIM-CS:skeletal > JOINT CONTRACTURES OMIM:254940 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254940 CAREY-FINEMAN-ZITER SYNDROME HP:0001762 Talipes equinovarus IEA IEA OMIM-CS:skeletalfeet > CLUBFEET OMIM:254940 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254940 CAREY-FINEMAN-ZITER SYNDROME HP:0001182 Tapered finger IEA IEA OMIM-CS:skeletalhands > TAPERING FINGERS OMIM:254940 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610125 MICROPHTHALMIA, SYNDROMIC 5 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:610125 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617006 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 HP:0012579 Minimal change glomerulonephritis IEA IEA rare OMIM-CS:genitourinarykidneys > MINIMAL CHANGE DISEASE (1 PATIENT) OMIM:617006 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617006 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 HP:0000100 Nephrotic syndrome IEA IEA rare OMIM-CS:genitourinarykidneys > NEPHROTIC SYNDROME (1 PATIENT) OMIM:617006 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617006 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 HP:0000093 Proteinuria IEA IEA OMIM-CS:genitourinarykidneys > PROTEINURIA OMIM:617006 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617006 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617006 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617006 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 HP:0003593 Infantile onset IEA IEA OMIM-CS:miscellaneous > ONSET IN INFANCY OMIM:617006 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614561 LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS HP:0003828 Variable expressivity IEA IEA OMIM-CS:miscellaneous > HIGHLY VARIABLE SEVERITY OMIM:614561 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614561 LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS HP:0003676 Progressive IEA IEA OMIM-CS:miscellaneous > PROGRESSIVE DISORDER OMIM:614561 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614561 LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DEVELOPMENTAL DELAY OMIM:614561 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614561 LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS HP:0001288 Gait disturbance IEA IEA OMIM-CS:neurologiccentralnervoussystem > GAIT ABNORMALITIES OMIM:614561 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616538 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:616538 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:606069 HEMOCHROMATOSIS, TYPE 4 HP:0011675 Arrhythmia IEA IEA OMIM-CS:cardiovascularheart > ARRHYTHMIA OMIM:606069 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:606069 HEMOCHROMATOSIS, TYPE 4 HP:0001638 Cardiomyopathy IEA IEA OMIM-CS:cardiovascularheart > CARDIOMYOPATHY OMIM:606069 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:606069 HEMOCHROMATOSIS, TYPE 4 HP:0000833 Glucose intolerance IEA IEA OMIM-CS:endocrinefeatures > IMPAIRED GLUCOSE TOLERANCE OMIM:606069 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:606069 HEMOCHROMATOSIS, TYPE 4 HP:0000802 Impotence IEA IEA OMIM-CS:genitourinaryexternalgenitaliamale > IMPOTENCE OMIM:606069 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:606069 HEMOCHROMATOSIS, TYPE 4 HP:0000518 Cataract IEA IEA OMIM-CS:headandneckeyes > CATARACT OMIM:606069 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:606069 HEMOCHROMATOSIS, TYPE 4 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:606069 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:606069 HEMOCHROMATOSIS, TYPE 4 HP:0003281 Increased serum ferritin IEA IEA OMIM-CS:laboratoryabnormalities > INCREASED SERUM FERRITIN OMIM:606069 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:606069 HEMOCHROMATOSIS, TYPE 4 HP:0012378 Fatigue IEA IEA OMIM-CS:neurologicbehavioralpsychiatricmanifestations > FATIGUE OMIM:606069 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:606069 HEMOCHROMATOSIS, TYPE 4 HP:0002829 Arthralgia IEA IEA OMIM-CS:skeletal > JOINT PAINS OMIM:606069 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:606069 HEMOCHROMATOSIS, TYPE 4 HP:0002758 Osteoarthritis IEA IEA OMIM-CS:skeletal > OSTEOARTHRITIS OMIM:606069 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602361 GRACILE BONE DYSPLASIA HP:0004331 Decreased skull ossification IEA IEA rare OMIM-CS:skeletalskull > DECREASED MINERALIZATION OF SKULL (IN SOME PATIENTS) OMIM:602361 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:304100 CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED HP:0001419 X-linked recessive inheritance IEA IEA OMIM-CS:inheritance > X-LINKED RECESSIVE OMIM:304100 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:125280 DENS EVAGINATUS HP:0011087 Talon cusp IEA IEA OMIM-CS:preferredtitle > DENS EVAGINATUS OMIM:125280 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617294 EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:617294 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617294 EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS HP:0002231 Sparse body hair IEA IEA OMIM-CS:skinnailshairhair > SPARSE BODY HAIR (IN ADULTHOOD) OMIM:617294 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617294 EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS HP:0001810 Dystrophic toenail IEA IEA OMIM-CS:skinnailshairnails > DYSTROPHIC TOENAILS OMIM:617294 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617294 EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS HP:0007435 Diffuse palmoplantar keratoderma IEA IEA OMIM-CS:skinnailshairskin > DIFFUSE PALMOPLANTAR KERATODERMA (IN ADULTHOOD) OMIM:617294 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300991 CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED HP:0001696 Situs inversus totalis IEA IEA OMIM-CS:abdomen > SITUS INVERSUS TOTALIS (IN ABOUT 50% OF PATIENTS) OMIM:300991 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300991 CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED HP:0000789 Infertility IEA IEA OMIM-CS:genitourinaryinternalgenitaliamale > INFERTILITY (DUE TO IMMOTILE SPERM) OMIM:300991 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300991 CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED HP:0011108 Recurrent sinusitis IEA IEA OMIM-CS:headandneckhead > SINUSITIS, RECURRENT OMIM:300991 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300991 CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED HP:0001419 X-linked recessive inheritance IEA IEA OMIM-CS:inheritance > X-LINKED RECESSIVE OMIM:300991 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300991 CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED HP:0002643 Neonatal respiratory distress IEA IEA OMIM-CS:respiratory > RESPIRATORY DISTRESS, NEONATAL OMIM:300991 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300991 CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED HP:0002205 Recurrent respiratory infections IEA IEA OMIM-CS:respiratory > RESPIRATORY INFECTIONS, RECURRENT (DUE TO IMPAIRED CILIARY CLEARANCE) OMIM:300991 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300991 CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED HP:0002110 Bronchiectasis IEA IEA OMIM-CS:respiratorylung > BRONCHIECTASIS OMIM:300991 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300919 MENTAL RETARDATION, X-LINKED 99 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:300919 HPO:skoehler 13.07.2017 ........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:607411 PATENT DUCTUS ARTERIOSUS 1 HP:0001643 Patent ductus arteriosus IEA IEA OMIM-CS:cardiovascularvascular > PATENT DUCTUS ARTERIOSUS OMIM:607411 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:607411 PATENT DUCTUS ARTERIOSUS 1 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:607411 HPO:skoehler 13.07.2017 .......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:216820 COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE HP:0000518 Cataract IEA IEA rare OMIM-CS:headandneckeyes > LENS OPACITY, MILD (IN SOME PATIENTS) OMIM:216820 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614207 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:614207 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614207 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:614207 HPO:skoehler 13.07.2017 ........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0001545 Anteriorly placed anus IEA IEA rare OMIM-CS:abdomengastrointestinal > ANTERIORLY PLACED ANUS (RARE) OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0010954 Hypoplastic right heart IEA IEA OMIM-CS:cardiovascularheart > HYPOPLASTIC RIGHT HEART OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0001655 Patent foramen ovale IEA IEA OMIM-CS:cardiovascularheart > PATENT FORAMEN OVALE OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0004935 Pulmonary artery atresia IEA IEA OMIM-CS:cardiovascularheart > PULMONARY ATRESIA OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0005180 Tricuspid regurgitation IEA IEA OMIM-CS:cardiovascularheart > TRICUSPID REGURGITATION OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0001629 Ventricular septal defect IEA IEA OMIM-CS:cardiovascularheart > VENTRICULAR SEPTAL DEFECT OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0001643 Patent ductus arteriosus IEA IEA OMIM-CS:cardiovascularvascular > PATENT DUCTUS ARTERIOSUS OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0000028 Cryptorchidism IEA IEA OMIM-CS:genitourinaryinternalgenitaliamale > CRYPTORCHIDISM (IN 1 PATIENT) OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0004322 Short stature IEA IEA OMIM-CS:growthheight > SHORT STATURE OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0000365 Hearing impairment IEA IEA rare OMIM-CS:headandneckears > HEARING LOSS (RARE) OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0000369 Low-set ears IEA IEA rare OMIM-CS:headandneckears > LOW-SET EARS (RARE) OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0000592 Blue sclerae IEA IEA rare OMIM-CS:headandneckeyes > BLUE SCLERAE (IN SOME PATIENTS) OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0000286 Epicanthus IEA IEA rare OMIM-CS:headandneckeyes > EPICANTHAL FOLDS (IN SOME PATIENTS) OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0000316 Hypertelorism IEA IEA rare OMIM-CS:headandneckeyes > HYPERTELORISM (IN SOME PATIENTS) OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0000527 Long eyelashes IEA IEA rare OMIM-CS:headandneckeyes > LONG EYELASHES (IN SOME PATIENTS) OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0000520 Proptosis IEA IEA OMIM-CS:headandneckeyes > PROMINENT EYES OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0000506 Telecanthus IEA IEA rare OMIM-CS:headandneckeyes > TELECANTHUS (IN SOME PATIENTS) OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0000582 Upslanted palpebral fissure IEA IEA OMIM-CS:headandneckeyes > UPSLANTING PALPEBRAL FISSURES OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0002007 Frontal bossing IEA IEA rare OMIM-CS:headandneckface > FRONTAL BOSSING (IN SOME PATIENTS) OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0000343 Long philtrum IEA IEA OMIM-CS:headandneckface > LONG PHILTRUM OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0000347 Micrognathia IEA IEA OMIM-CS:headandneckface > MICROGNATHIA OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0011800 Midface retrusion IEA IEA OMIM-CS:headandneckface > MIDFACE HYPOPLASIA OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0000256 Macrocephaly IEA IEA rare OMIM-CS:headandneckhead > MACROCEPHALY (IN SOME PATIENTS) OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0410030 Cleft lip IEA IEA rare OMIM-CS:headandneckmouth > CLEFT LIP (IN SOME PATIENTS) OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0000175 Cleft palate IEA IEA OMIM-CS:headandneckmouth > CLEFT PALATE OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0002714 Downturned corners of mouth IEA IEA OMIM-CS:headandneckmouth > DOWNTURNED MOUTH OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0000212 Gingival overgrowth IEA IEA OMIM-CS:headandneckmouth > GINGIVAL HYPERPLASIA OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0000470 Short neck IEA IEA rare OMIM-CS:headandneckneck > SHORT NECK (IN SOME PATIENTS) OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0000465 Webbed neck IEA IEA rare OMIM-CS:headandneckneck > WEBBED NECK (IN SOME PATIENTS) OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0000463 Anteverted nares IEA IEA OMIM-CS:headandnecknose > ANTEVERTED NARES OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0005280 Depressed nasal bridge IEA IEA OMIM-CS:headandnecknose > LOW NASAL BRIDGE OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0003196 Short nose IEA IEA OMIM-CS:headandnecknose > SHORT NOSE OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0000431 Wide nasal bridge IEA IEA OMIM-CS:headandnecknose > WIDE NASAL BRIDGE OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0000689 Dental malocclusion IEA IEA rare OMIM-CS:headandneckteeth > MALOCCLUSION (IN SOME PATIENTS) OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0006349 Agenesis of permanent teeth IEA IEA rare OMIM-CS:headandneckteeth > MISSING TEETH (IN SOME PATIENTS) OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0001156 Brachydactyly IEA IEA OMIM-CS:skeletalhands > BRACHYDACTYLY OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0011304 Broad thumb IEA IEA rare OMIM-CS:skeletalhands > BROAD THUMB (IN SOME PATIENTS) OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0030084 Clinodactyly IEA IEA OMIM-CS:skeletalhands > CLINODACTYLY OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0009803 Short phalanx of finger IEA IEA rare OMIM-CS:skeletalhands > HYPOPLASTIC PHALANGES (IN SOME PATIENTS) OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0003027 Mesomelia IEA IEA OMIM-CS:skeletallimbs > MESOMELIA OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0000256 Macrocephaly IEA IEA rare OMIM-CS:skeletalskull > MACROCEPHALY (IN SOME PATIENTS) OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0002808 Kyphosis IEA IEA rare OMIM-CS:skeletalspine > KYPHOSIS (IN SOME PATIENTS) OMIM:616894 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 HP:0002650 Scoliosis IEA IEA rare OMIM-CS:skeletalspine > SCOLIOSIS (IN SOME PATIENTS) OMIM:616894 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:603075 MACULAR DEGENERATION, AGE-RELATED, 1 HP:0012643 Foveal hypopigmentation IEA IEA OMIM-CS:headandneckeyes > FOVEAL HYPOPIGMENTATION (IN PRESYMPTOMATIC YOUNGER PATIENTS) OMIM:603075 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:603075 MACULAR DEGENERATION, AGE-RELATED, 1 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:603075 HPO:skoehler 13.07.2017 ..filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0000006 Autosomal dominant inheritance TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0004322 Short stature TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0000256 Macrocephaly TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0000248 Brachycephaly TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0000337 Broad forehead TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0000348 High forehead TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0000324 Facial asymmetry TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0000322 Short philtrum TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0000396 Overfolded helix TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0000389 Chronic otitis media TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0011228 Horizontal eyebrow TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0000527 Long eyelashes TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0000455 Broad nasal tip TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0000347 Micrognathia TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0000218 High palate TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0000699 Diastema TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0001643 Patent ductus arteriosus TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0012450 Chronic constipation TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0000028 Cryptorchidism TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0000122 Unilateral renal agenesis TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0000126 Hydronephrosis TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0000965 Cutis marmorata TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0001252 Muscular hypotonia TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0001263 Global developmental delay TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0001250 Seizures TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0000238 Hydrocephalus TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0001288 Gait disturbance TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0002119 Ventriculomegaly TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0002079 Hypoplasia of the corpus callosum TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0001320 Cerebellar vermis hypoplasia TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0000739 Anxiety TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0007018 Attention deficit hyperactivity disorder TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0000729 Autistic behavior TAS TAS OMIM HPO:skoehler 2016-02-25 filter this Thu Feb 25 00:00:00 CET 2016 OMIM:609757 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME HP:0000824 Growth hormone deficiency TAS TAS OMIM HPO:skoehler 2016-02-25 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:609560 MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:609560 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300983 MENTAL RETARDATION, X-LINKED 104 HP:0001419 X-linked recessive inheritance IEA IEA OMIM-CS:inheritance > X-LINKED RECESSIVE OMIM:300983 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300983 MENTAL RETARDATION, X-LINKED 104 HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DEVELOPMENTAL DELAY OMIM:300983 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300983 MENTAL RETARDATION, X-LINKED 104 HP:0001249 Intellectual disability IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY OMIM:300983 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300983 MENTAL RETARDATION, X-LINKED 104 HP:0001250 Seizures IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > SEIZURES (IN SOME PATIENTS) OMIM:300983 HPO:skoehler 13.07.2017 ... ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608149 KAGAMI-OGATA SYNDROME HP:0000343 Long philtrum IEA IEA OMIM-CS:headandneckface > ELONGATED PHILTRUM OMIM:608149 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608149 KAGAMI-OGATA SYNDROME HP:0011335 Frontal hirsutism IEA IEA OMIM-CS:headandneckface > HAIRY FOREHEAD OMIM:608149 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608149 KAGAMI-OGATA SYNDROME HP:0001290 Generalized hypotonia IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA (IN SOME PATIENTS) OMIM:608149 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608149 KAGAMI-OGATA SYNDROME HP:0011335 Frontal hirsutism IEA IEA OMIM-CS:skinnailshairhair > HAIRY FOREHEAD OMIM:608149 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:214110 PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neuro > HYPOTONIA OMIM:214110 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:229050 FOLATE MALABSORPTION, HEREDITARY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:229050 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:249900 METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:249900 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615636 JOUBERT SYNDROME 21 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:615636 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:609625 CHROMOSOME 10Q26 DELETION SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:609625 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604377 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:604377 HPO:skoehler 13.07.2017 ..........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602134 TREMOR, HEREDITARY ESSENTIAL, 2 HP:0030186 Kinetic tremor IEA IEA OMIM-CS:neuro > ESSENTIAL TREMOR OMIM:602134 HPO:skoehler 13.07.2017 .........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617021 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA HP:0001410 Decreased liver function IEA IEA OMIM-CS:abdomenliver > LIVER DYSFUNCTION OMIM:617021 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617021 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA HP:0011675 Arrhythmia IEA IEA OMIM-CS:cardiovascularheart > ARRHYTHMIAS OMIM:617021 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617021 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA HP:0001629 Ventricular septal defect IEA IEA OMIM-CS:cardiovascularheart > VENTRICULAR SEPTAL DEFECT OMIM:617021 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617021 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA HP:0001643 Patent ductus arteriosus IEA IEA OMIM-CS:cardiovascularvascular > PATENT DUCTUS ARTERIOSUS OMIM:617021 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617021 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA HP:0001511 Intrauterine growth retardation IEA IEA OMIM-CS:growthother > INTRAUTERINE GROWTH RESTRICTION OMIM:617021 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617021 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA HP:0001924 Sideroblastic anemia IEA IEA OMIM-CS:hematology > SIDEROBLASTIC ANEMIA OMIM:617021 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617021 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA HP:0001873 Thrombocytopenia IEA IEA OMIM-CS:hematology > THROMBOCYTOPENIA OMIM:617021 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617021 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617021 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617021 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA HP:0003128 Lactic acidosis IEA IEA OMIM-CS:metabolicfeatures > LACTIC ACIDOSIS OMIM:617021 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617021 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA HP:0003577 Congenital onset IEA IEA OMIM-CS:miscellaneous > ONSET AT BIRTH OMIM:617021 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617021 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA HP:0002353 EEG abnormality IEA IEA OMIM-CS:neurologiccentralnervoussystem > ABNORMAL EEG OMIM:617021 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617021 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA HP:0001250 Seizures IEA IEA OMIM-CS:neurologiccentralnervoussystem > SEIZURES OMIM:617021 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617021 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA HP:0001562 Oligohydramnios IEA IEA OMIM-CS:prenatalmanifestationsamnioticfluid > OLIGOHYDRAMNIOS OMIM:617021 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617021 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA HP:0002093 Respiratory insufficiency IEA IEA OMIM-CS:respiratory > RESPIRATORY INSUFFICIENCY OMIM:617021 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:609241 SCHINDLER DISEASE, TYPE I HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:609241 HPO:skoehler 13.07.2017 ..filter this Mon May 29 00:00:00 CEST 2017 OMIM:228300 HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23 HP:0008669 Abnormal spermatogenesis TAS TAS OMIM:228300 HPO:probinson 2017-05-29 filter this Mon May 29 00:00:00 CEST 2017 OMIM:228300 HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23 HP:0010789 Abnormality of the Leydig cells TAS TAS OMIM:228300 HPO:probinson 2017-05-29 filter this Mon May 29 00:00:00 CEST 2017 OMIM:228300 HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23 HP:0000044 Hypogonadotrophic hypogonadism TAS TAS OMIM:228300 HPO:probinson 2017-05-29 filter this Mon May 29 00:00:00 CEST 2017 OMIM:228300 HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23 HP:0030344 Decreased circulating luteinizing hormone level TAS TAS OMIM:228300 HPO:probinson 2017-05-29 filter this Mon May 29 00:00:00 CEST 2017 OMIM:228300 HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23 HP:0040171 Decreased serum testosterone level TAS TAS OMIM:228300 HPO:probinson 2017-05-29 filter this Mon May 29 00:00:00 CEST 2017 OMIM:228300 HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23 HP:0000138 Ovarian cyst TAS TAS OMIM:228300 HPO:probinson 2017-05-29 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614501 PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:614501 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614654 COENZYME Q10 DEFICIENCY, PRIMARY, 5 HP:0001662 Bradycardia IEA IEA OMIM-CS:cardiovascularheart > BRADYCARDIA OMIM:614654 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614654 COENZYME Q10 DEFICIENCY, PRIMARY, 5 HP:0001511 Intrauterine growth retardation IEA IEA OMIM-CS:growthother > INTRAUTERINE GROWTH RETARDATION OMIM:614654 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614654 COENZYME Q10 DEFICIENCY, PRIMARY, 5 HP:0003348 Hyperalaninemia IEA IEA OMIM-CS:laboratoryabnormalities > INCREASED SERUM ALANINE OMIM:614654 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614654 COENZYME Q10 DEFICIENCY, PRIMARY, 5 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:614654 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614654 COENZYME Q10 DEFICIENCY, PRIMARY, 5 HP:0001332 Dystonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > DYSTONIA OMIM:614654 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614654 COENZYME Q10 DEFICIENCY, PRIMARY, 5 HP:0001298 Encephalopathy IEA IEA OMIM-CS:neurologiccentralnervoussystem > ENCEPHALOPATHY OMIM:614654 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614654 COENZYME Q10 DEFICIENCY, PRIMARY, 5 HP:0002093 Respiratory insufficiency IEA IEA OMIM-CS:respiratory > RESPIRATORY INSUFFICIENCY OMIM:614654 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614947 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 HP:0001290 Generalized hypotonia IEA IEA rare OMIM-CS:musclesofttissue > HYPOTONIA (IN SOME PATIENTS) OMIM:614947 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:607936 PEELING SKIN SYNDROME 4 HP:0008404 Nail dystrophy IEA IEA rare OMIM-CS:skinnailshairnails > ONYCHODYSTROPHY, MILD, OF THE TOENAILS (RARE) OMIM:607936 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:607936 PEELING SKIN SYNDROME 4 HP:0025092 Epidermal acanthosis IEA IEA rare OMIM-CS:skinnailshairskinhistology > ACANTHOSIS (IN SOME PATIENTS) OMIM:607936 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617093 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY HP:0001410 Decreased liver function IEA IEA rare OMIM-CS:abdomenliver > LIVER DYSFUNCTION (IN SOME PATIENTS) OMIM:617093 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617093 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY HP:0001397 Hepatic steatosis IEA IEA rare OMIM-CS:abdomenliver > STEATOSIS (IN SOME PATIENTS) OMIM:617093 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617093 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY HP:0001508 Failure to thrive IEA IEA OMIM-CS:growthother > FAILURE TO THRIVE OMIM:617093 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617093 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY HP:0001511 Intrauterine growth retardation IEA IEA OMIM-CS:growthother > INTRAUTERINE GROWTH RETARDATION OMIM:617093 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617093 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY HP:0008897 Postnatal growth retardation IEA IEA OMIM-CS:growthother > POSTNATAL GROWTH RETARDATION OMIM:617093 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617093 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY HP:0000407 Sensorineural hearing impairment IEA IEA rare OMIM-CS:headandneckears > SENSORINEURAL HEARING LOSS (1 PATIENT) OMIM:617093 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617093 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY HP:0000252 Microcephaly IEA IEA OMIM-CS:headandneckhead > MICROCEPHALY (-3 TO -5 SD) OMIM:617093 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617093 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617093 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617093 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY HP:0002910 Elevated hepatic transaminases IEA IEA rare OMIM-CS:laboratoryabnormalities > ABNORMAL LIVER ENZYMES (IN SOME PATIENTS) OMIM:617093 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617093 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY HP:0003577 Congenital onset IEA IEA OMIM-CS:miscellaneous > ONSET AT BIRTH OMIM:617093 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617093 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY HP:0003828 Variable expressivity IEA IEA OMIM-CS:miscellaneous > VARIABLE SEVERITY OMIM:617093 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617093 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:617093 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617093 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:617093 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617093 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY HP:0001249 Intellectual disability IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, VARIABLE SEVERITY OMIM:617093 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617093 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY HP:0001250 Seizures IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > SEIZURES (1 PATIENT) OMIM:617093 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617093 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY HP:0001257 Spasticity IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > SPASTICITY (1 PATIENT) OMIM:617093 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:255980 NASODIGITOACOUSTIC SYNDROME HP:0009765 Low hanging columella IEA IEA OMIM-CS:headandnecknose > PROMINENT COLUMELLA OMIM:255980 HPO:skoehler 13.07.2017 .........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613724 LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:613724 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:163050 NEVUS ANEMICUS HP:0025105 Nevus anemicus IEA IEA OMIM-CS:preferredtitle > NEVUS ANEMICUS OMIM:163050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:163050 NEVUS ANEMICUS HP:0025105 Nevus anemicus IEA IEA OMIM-CS:skin > NEVUS ANEMICUS OMIM:163050 HPO:skoehler 13.07.2017 ...filter this Sat Jun 17 00:00:00 CEST 2017 OMIM:616738 #616738 RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2 HP:0006394 Limited pronation/supination of forearm TAS TAS OMIM:616738 HPO:probinson 2017-06-17 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616738 RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 HP:0001905 Congenital thrombocytopenia IEA IEA OMIM-CS:hematology > THROMBOCYTOPENIA, CONGENITAL (PROGRESSES TO PANCYTOPENIA) OMIM:616738 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616738 RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:616738 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:603511 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E HP:0010628 Facial palsy IEA IEA rare OMIM-CS:headandneckface > FACIAL WEAKNESS (IN SOME PATIENTS) OMIM:603511 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:603511 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E HP:0001283 Bulbar palsy IEA IEA rare OMIM-CS:musclesofttissue > BULBAR MUSCLE WEAKNESS (IN SOME PATIENTS) OMIM:603511 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:603511 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E HP:0002094 Dyspnea IEA IEA rare OMIM-CS:respiratory > DYSPNEA (IN SOME PATIENTS) OMIM:603511 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:603511 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E HP:0001371 Flexion contracture IEA IEA rare OMIM-CS:skeletal > CONTRACTURES (IN SOME PATIENTS) OMIM:603511 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614342 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 30 HP:0001510 Growth delay IEA IEA OMIM-CS:growthother > GROWTH RETARDATION OMIM:614342 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614342 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 30 HP:0000252 Microcephaly IEA IEA OMIM-CS:headandneckhead > MICROCEPHALY, MILD OMIM:614342 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614342 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 30 HP:0000158 Macroglossia IEA IEA OMIM-CS:headandneckmouth > MACROGLOSSIA OMIM:614342 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614342 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 30 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:614342 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614342 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 30 HP:0010864 Intellectual disability, severe IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, SEVERE OMIM:614342 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617091 CILIARY DYSKINESIA, PRIMARY, 34 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617091 HPO:skoehler 13.07.2017 .........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:136140 FLOATING-HARBOR SYNDROME HP:0030424 Epididymal cyst IEA IEA rare OMIM-CS:genitourinaryinternalgenitaliamale > EPIDIDYMAL CYSTS, BILATERAL (RARE) OMIM:136140 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:136140 FLOATING-HARBOR SYNDROME HP:0100543 Cognitive impairment IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL IMPAIRMENT, MILD (IN SOME PATIENTS) OMIM:136140 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:268850 RICHIERI-COSTA/GUION-ALMEIDA SYNDROME HP:0000303 Mandibular prognathia IEA IEA OMIM-CS:headandneckmouth > PROMINENT MANDIBLE OMIM:268850 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:268850 RICHIERI-COSTA/GUION-ALMEIDA SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:268850 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617207 ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY HP:0001507 Growth abnormality IEA IEA NOT NOT OMIM-CS:growthother > NORMAL GROWTH OMIM:617207 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617207 ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY HP:0000648 Optic atrophy IEA IEA OMIM-CS:headandneckeyes > OPTIC ATROPHY OMIM:617207 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617207 ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617207 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617207 ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY HP:0003593 Infantile onset IEA IEA OMIM-CS:miscellaneous > INFANTILE ONSET OMIM:617207 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617207 ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY HP:0003676 Progressive IEA IEA OMIM-CS:miscellaneous > PROGRESSIVE DISORDER OMIM:617207 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617207 ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY HP:0006829 Severe muscular hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA, SEVERE OMIM:617207 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617207 ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY HP:0001251 Ataxia IEA IEA OMIM-CS:neurologiccentralnervoussystem > ATAXIA OMIM:617207 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617207 ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY HP:0001272 Cerebellar atrophy IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR ATROPHY OMIM:617207 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617207 ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:617207 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617207 ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY HP:0001260 Dysarthria IEA IEA OMIM-CS:neurologiccentralnervoussystem > DYSARTHRIA OMIM:617207 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617207 ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY HP:0001298 Encephalopathy IEA IEA OMIM-CS:neurologiccentralnervoussystem > ENCEPHALOPATHY OMIM:617207 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617207 ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY HP:0009027 Foot dorsiflexor weakness IEA IEA OMIM-CS:neurologiccentralnervoussystem > FOOT DROP OMIM:617207 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617207 ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY HP:0001249 Intellectual disability IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY (VARIABLE SEVERITY) OMIM:617207 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617207 ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY HP:0001250 Seizures IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > SEIZURES (RARE) OMIM:617207 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617207 ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY HP:0002510 Spastic tetraplegia IEA IEA OMIM-CS:neurologiccentralnervoussystem > SPASTIC TETRAPLEGIA OMIM:617207 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617207 ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY HP:0007269 Spinal muscular atrophy IEA IEA OMIM-CS:neurologiccentralnervoussystem > SPINAL MUSCULAR ATROPHY OMIM:617207 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617207 ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY HP:0002079 Hypoplasia of the corpus callosum IEA IEA OMIM-CS:neurologiccentralnervoussystem > THIN CORPUS CALLOSUM OMIM:617207 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617207 ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY HP:0003477 Peripheral axonal neuropathy IEA IEA OMIM-CS:neurologicperipheralnervoussystem > AXONAL PERIPHERAL NEUROPATHY OMIM:617207 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617207 ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY HP:0002650 Scoliosis IEA IEA OMIM-CS:skeletalspine > SCOLIOSIS OMIM:617207 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612310 PREMATURE OVARIAN FAILURE 6 HP:0000013 Hypoplasia of the uterus IEA IEA OMIM-CS:genitourinaryinternalgenitaliafemale > SMALL UTERUS OMIM:612310 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617308 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 HP:0002570 Steatorrhea IEA IEA OMIM-CS:abdomengastrointestinal > STEATORRHEA (PATIENT A) OMIM:617308 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617308 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 HP:0000511 Vertical supranuclear gaze palsy IEA IEA OMIM-CS:headandneckeyes > VERTICAL GAZE PALSY, MILD (PATIENT A) OMIM:617308 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617308 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617308 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617308 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 HP:0045014 Hypolipidemia IEA IEA OMIM-CS:laboratoryabnormalities > HYPOLIPIDEMIA (PATIENT A) OMIM:617308 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617308 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 HP:0100512 Vitamin D deficiency IEA IEA OMIM-CS:laboratoryabnormalities > VITAMIN D DEFICIENCY (PATIENT A) OMIM:617308 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617308 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 HP:0003593 Infantile onset IEA IEA OMIM-CS:miscellaneous > ONSET IN INFANCY OMIM:617308 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617308 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 HP:0001251 Ataxia IEA IEA OMIM-CS:neurologiccentralnervoussystem > ATAXIA, MILD (PATIENT A) OMIM:617308 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617308 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED DEVELOPMENT, MILD (PATIENT A) OMIM:617308 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617308 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 HP:0001310 Dysmetria IEA IEA OMIM-CS:neurologiccentralnervoussystem > DYSMETRIA, MILD (PATIENT A) OMIM:617308 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617308 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 HP:0001256 Intellectual disability, mild IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, MILD (PATIENT A) OMIM:617308 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617308 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 HP:0001350 Slurred speech IEA IEA OMIM-CS:neurologiccentralnervoussystem > SLURRED SPEECH (PATIENT A) OMIM:617308 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617308 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 HP:0000750 Delayed speech and language development IEA IEA OMIM-CS:neurologiccentralnervoussystem > SPEECH DELAY, MILD (PATIENT A) OMIM:617308 HPO:skoehler 13.07.2017 .... filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616763 LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA HP:0005484 Postnatal microcephaly IEA IEA OMIM-CS:headandneckhead > MICROCEPHALY, ACQUIRED (-3 SD) OMIM:616763 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616763 LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA HP:0003593 Infantile onset IEA IEA OMIM-CS:miscellaneous > ONSET IN INFANCY OMIM:616763 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616763 LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA HP:0002415 Leukodystrophy IEA IEA OMIM-CS:neurologiccentralnervoussystem > LEUKODYSTROPHY OMIM:616763 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616763 LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA HP:0010864 Intellectual disability, severe IEA IEA OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION, SEVERE OMIM:616763 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:263700 PORPHYRIA, CONGENITAL ERYTHROPOIETIC HP:0002223 Absent eyebrow IEA IEA OMIM-CS:skinnailshairhair > LOSS OF EYEBROWS OMIM:263700 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:167700 PALMOMENTAL REFLEX HP:0030902 Palmomental reflex IEA IEA OMIM-CS:preferredtitle > PALMOMENTAL REFLEX OMIM:167700 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616617 HEIMLER SYNDROME 2 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:616617 HPO:skoehler 13.07.2017 .........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614892 IMMUNODEFICIENCY 31A HP:0003829 Incomplete penetrance IEA IEA OMIM-CS:miscellaneous > INCOMPLETE PENETRANCE OMIM:614892 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611603 LISSENCEPHALY 3 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:611603 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617180 CHITAYAT SYNDROME HP:0000316 Hypertelorism IEA IEA OMIM-CS:headandneckeyes > HYPERTELORISM OMIM:617180 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617180 CHITAYAT SYNDROME HP:0000520 Proptosis IEA IEA OMIM-CS:headandneckeyes > PROMINENT EYES OMIM:617180 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617180 CHITAYAT SYNDROME HP:0012471 Thick vermilion border IEA IEA OMIM-CS:headandneckmouth > FULL LIPS OMIM:617180 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617180 CHITAYAT SYNDROME HP:0005280 Depressed nasal bridge IEA IEA OMIM-CS:headandnecknose > DEPRESSED NASAL BRIDGE OMIM:617180 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617180 CHITAYAT SYNDROME HP:0002000 Short columella IEA IEA OMIM-CS:headandnecknose > SHORT COLUMELLA OMIM:617180 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617180 CHITAYAT SYNDROME HP:0000463 Anteverted nares IEA IEA OMIM-CS:headandnecknose > UPTURNED NOSE OMIM:617180 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617180 CHITAYAT SYNDROME HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:617180 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617180 CHITAYAT SYNDROME HP:0001290 Generalized hypotonia IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA (IN SOME PATIENTS) OMIM:617180 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617180 CHITAYAT SYNDROME HP:0001561 Polyhydramnios IEA IEA OMIM-CS:prenatalmanifestationsamnioticfluid > POLYHYDRAMNIOS OMIM:617180 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617180 CHITAYAT SYNDROME HP:0002780 Bronchomalacia IEA IEA OMIM-CS:respiratoryairways > BRONCHOMALACIA OMIM:617180 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617180 CHITAYAT SYNDROME HP:0002205 Recurrent respiratory infections IEA IEA OMIM-CS:respiratoryairways > RECURRENT RESPIRATORY INFECTIONS OMIM:617180 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617180 CHITAYAT SYNDROME HP:0002779 Tracheomalacia IEA IEA OMIM-CS:respiratoryairways > TRACHEOMALACIA OMIM:617180 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617180 CHITAYAT SYNDROME HP:0006530 Interstitial pulmonary abnormality IEA IEA OMIM-CS:respiratorylung > INTERSTITIAL LUNG DISEASE OMIM:617180 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617180 CHITAYAT SYNDROME HP:0001156 Brachydactyly IEA IEA OMIM-CS:skeletalhands > BRACHYDACTYLY OMIM:617180 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617306 COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS HP:0000358 Posteriorly rotated ears IEA IEA OMIM-CS:headandneckears > POSTERIORLY ROTATED EARS OMIM:617306 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617306 COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS HP:0004467 Preauricular pit IEA IEA OMIM-CS:headandneckears > PREAURICULAR PITS OMIM:617306 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617306 COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS HP:0000589 Coloboma IEA IEA OMIM-CS:headandneckeyes > COLOBOMA OMIM:617306 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617306 COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS HP:0000586 Shallow orbits IEA IEA OMIM-CS:headandneckeyes > SHALLOW ORBITS OMIM:617306 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617306 COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS HP:0002007 Frontal bossing IEA IEA OMIM-CS:headandneckface > FRONTAL BOSSING OMIM:617306 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617306 COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS HP:0000347 Micrognathia IEA IEA OMIM-CS:headandneckface > MICROGNATHIA (IN 1 PATIENT) OMIM:617306 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617306 COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS HP:0000256 Macrocephaly IEA IEA OMIM-CS:headandneckhead > MACROCEPHALY OMIM:617306 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617306 COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617306 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617306 COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA, MILD GENERALIZED (IN 1 PATIENT) OMIM:617306 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617306 COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS HP:0011002 Osteopetrosis IEA IEA OMIM-CS:skeletal > OSTEOPETROSIS OMIM:617306 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601829 ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE HP:0045075 Sparse eyebrow IEA IEA OMIM-CS:headandneckeyes > SPARSE EYEBROWS OMIM:601829 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601829 ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE HP:0011220 Prominent forehead IEA IEA OMIM-CS:headandneckface > PROMINENT FOREHEAD OMIM:601829 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601829 ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE HP:0000272 Malar flattening IEA IEA OMIM-CS:headandneckmouth > MALAR HYPOPLASIA OMIM:601829 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601829 ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:601829 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615031 SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE HP:0000338 Hypomimic face IEA IEA OMIM-CS:headandneckface > HYPOMIMIA OMIM:615031 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615031 SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:615031 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615031 SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:615031 HPO:skoehler 13.07.2017 ...........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:183090 SPINOCEREBELLAR ATAXIA 2 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:183090 HPO:skoehler 13.07.2017 ..........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610687 NEMALINE MYOPATHY 7 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:610687 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:121070 ARTHROGRYPOSIS, DISTAL, TYPE 2E HP:0000211 Trismus IEA IEA OMIM-CS:mouth > LIMITED JAW MOVEMENT OMIM:121070 HPO:skoehler 13.07.2017 ............filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614602 TRICHOHEPATOENTERIC SYNDROME 2 HP:0040303 Decreased serum iron IEA IEA rare OMIM-CS:laboratoryabnormalities > DECREASED SERUM IRON (IN SOME PATIENTS) OMIM:614602 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:133800 EYEBROW, WHORL IN HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:133800 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617166 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 HP:0012450 Chronic constipation IEA IEA OMIM-CS:abdomengastrointestinal > CHRONIC CONSTIPATION OMIM:617166 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617166 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 HP:0011968 Feeding difficulties IEA IEA OMIM-CS:abdomengastrointestinal > POOR FEEDING OMIM:617166 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617166 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 HP:0100704 Cortical visual impairment IEA IEA rare OMIM-CS:headandneckeyes > CORTICAL VISUAL IMPAIRMENT (IN SOME PATIENTS) OMIM:617166 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617166 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 HP:0000543 Optic disc pallor IEA IEA rare OMIM-CS:headandneckeyes > PALE OPTIC DISCS (IN SOME PATIENTS) OMIM:617166 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617166 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 HP:0005484 Postnatal microcephaly IEA IEA rare OMIM-CS:headandneckhead > MICROCEPHALY, ACQUIRED (IN SOME PATIENTS) OMIM:617166 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617166 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:617166 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617166 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 HP:0003828 Variable expressivity IEA IEA OMIM-CS:miscellaneous > VARIABLE SEVERITY OMIM:617166 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617166 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 HP:0008936 Muscular hypotonia of the trunk IEA IEA OMIM-CS:musclesofttissue > AXIAL HYPOTONIA OMIM:617166 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617166 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 HP:0001288 Gait disturbance IEA IEA OMIM-CS:neurologiccentralnervoussystem > ABNORMAL GAIT OMIM:617166 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617166 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 HP:0001272 Cerebellar atrophy IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR ATROPHY OMIM:617166 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617166 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 HP:0002376 Developmental regression IEA IEA OMIM-CS:neurologiccentralnervoussystem > DEVELOPMENTAL REGRESSION OMIM:617166 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617166 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 HP:0002353 EEG abnormality IEA IEA OMIM-CS:neurologiccentralnervoussystem > EEG ABNORMALITIES OMIM:617166 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617166 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 HP:0200134 Epileptic encephalopathy IEA IEA OMIM-CS:neurologiccentralnervoussystem > EPILEPTIC ENCEPHALOPATHY OMIM:617166 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617166 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 HP:0002521 Hypsarrhythmia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPSARRHYTHMIA OMIM:617166 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617166 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 HP:0002540 Inability to walk IEA IEA OMIM-CS:neurologiccentralnervoussystem > INABILITY TO WALK OMIM:617166 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617166 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 HP:0001344 Absent speech IEA IEA OMIM-CS:neurologiccentralnervoussystem > LACK OF SPEECH OMIM:617166 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617166 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 HP:0002070 Limb ataxia IEA IEA OMIM-CS:neurologiccentralnervoussystem > LIMB ATAXIA OMIM:617166 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617166 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 HP:0010841 Multifocal epileptiform discharges IEA IEA OMIM-CS:neurologiccentralnervoussystem > MULTIFOCAL EPILEPTIFORM DISCHARGES OMIM:617166 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617166 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 HP:0002465 Poor speech IEA IEA OMIM-CS:neurologiccentralnervoussystem > POOR SPEECH OMIM:617166 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617166 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 HP:0001250 Seizures IEA IEA MODIFIER:REFRACTORY;OMIM-CS:neurologiccentralnervoussystem > SEIZURES, REFRACTORY OMIM:617166 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617166 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 HP:0002133 Status epilepticus IEA IEA OMIM-CS:neurologiccentralnervoussystem > STATUS EPILEPTICUS OMIM:617166 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:314360 ULNAR HYPOPLASIA WITH LOBSTER-CLAW DEFORMITY OF FEET HP:0001419 X-linked recessive inheritance IEA IEA OMIM-CS:inheritance > X-LINKED RECESSIVE OMIM:314360 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617439 CRANIOSYNOSTOSIS 7 HP:0001363 Craniosynostosis IEA IEA OMIM-CS:headandneckhead > CRANIOSYNOSTOSIS OMIM:617439 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617439 CRANIOSYNOSTOSIS 7 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT (SEE QUALIFIER BELOW) OMIM:617439 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617439 CRANIOSYNOSTOSIS 7 HP:0012758 Neurodevelopmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > NEURODEVELOPMENTAL DELAY OMIM:617439 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617439 CRANIOSYNOSTOSIS 7 HP:0000750 Delayed speech and language development IEA IEA OMIM-CS:neurologiccentralnervoussystem > SPEECH DELAY OMIM:617439 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617439 CRANIOSYNOSTOSIS 7 HP:0001363 Craniosynostosis IEA IEA OMIM-CS:skeletalskull > CRANIOSYNOSTOSIS OMIM:617439 HPO:skoehler 13.07.2017 ..........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:609029 EMANUEL SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:609029 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613735 BRAIN MALFORMATIONS AND URINARY TRACT DEFECTS HP:0003812 Phenotypic variability IEA IEA OMIM-CS:miscellaneous > VARIABLE PHENOTYPE OMIM:613735 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613735 BRAIN MALFORMATIONS AND URINARY TRACT DEFECTS HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:613735 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613735 BRAIN MALFORMATIONS AND URINARY TRACT DEFECTS HP:0100543 Cognitive impairment IEA IEA OMIM-CS:neurologiccentralnervoussystem > COGNITIVE IMPAIRMENT OMIM:613735 HPO:skoehler 13.07.2017 .......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA HP:0000726 Dementia IEA IEA OMIM-CS:neurologiccentralnervoussystem > DEMENTIA (IN A SUBSET OF PATIENTS) OMIM:208920 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616056 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:616056 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616056 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 HP:0001250 Seizures IEA IEA OMIM-CS:neurologiccentralnervoussystem > SEIZURES, MULTIPLE TYPES OMIM:616056 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615502 MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 HP:0001680 Coarctation of aorta IEA IEA rare OMIM-CS:cardiovascularheart > AORTIC COARCTATION, MILD (RARE) OMIM:615502 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615502 MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:615502 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615502 MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:615502 HPO:skoehler 13.07.2017 .. ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:607341 FOCAL CORTICAL DYSPLASIA, TYPE II HP:0001428 Somatic mutation IEA IEA OMIM-CS:inheritance > SOMATIC MUTATION OMIM:607341 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:185070 STORMORKEN SYNDROME HP:0004322 Short stature IEA IEA OMIM-CS:growthheight > SHORT STATURE OMIM:185070 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:185070 STORMORKEN SYNDROME HP:0003676 Progressive IEA IEA OMIM-CS:miscellaneous > PROGRESSIVE DISORDER OMIM:185070 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:211370 BRACHYMETAPODY-ANODONTIA-HYPOTRICHOSIS-ALBINOIDISM HP:0002213 Fine hair IEA IEA OMIM-CS:skinnailshairhair > THIN HAIR OMIM:211370 HPO:skoehler 13.07.2017 ............filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615830 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4 HP:0500011 Moon facies IEA IEA OMIM-CS:headandneckface > MOON FACIES OMIM:615830 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615830 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4 HP:0025383 Dorsocervical fat pad IEA IEA OMIM-CS:musclesofttissue > BUFFALO HUMP OMIM:615830 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:277380 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:277380 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614962 LEPTIN DEFICIENCY OR DYSFUNCTION HP:0410018 Recurrent ear infections IEA IEA OMIM-CS:headandneckears > RECURRENT EAR INFECTIONS OMIM:614962 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602531 GRANGE SYNDROME HP:0001647 Bicuspid aortic valve IEA IEA rare OMIM-CS:cardiovascularheart > BICUSPID AORTIC VALVE (IN SOME PATIENTS) OMIM:602531 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602531 GRANGE SYNDROME HP:0005145 Coronary artery stenosis IEA IEA rare OMIM-CS:cardiovascularheart > CORONARY ARTERY STENOSIS (IN SOME PATIENTS) OMIM:602531 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602531 GRANGE SYNDROME HP:0001920 Renal artery stenosis IEA IEA OMIM-CS:cardiovascularvascular > RENAL ARTERY STENOSIS OMIM:602531 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602531 GRANGE SYNDROME HP:0100817 Renovascular hypertension IEA IEA OMIM-CS:cardiovascularvascular > RENOVASCULAR HYPERTENSION OMIM:602531 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602531 GRANGE SYNDROME HP:0004325 Decreased body weight IEA IEA OMIM-CS:growthweight > LOW WEIGHT OMIM:602531 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602531 GRANGE SYNDROME HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:602531 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602531 GRANGE SYNDROME HP:0001249 Intellectual disability IEA IEA OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION, MILD TO MODERATE OMIM:602531 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602531 GRANGE SYNDROME HP:0002659 Increased susceptibility to fractures IEA IEA OMIM-CS:skeletal > BONE FRAGILITY OMIM:602531 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602531 GRANGE SYNDROME HP:0001156 Brachydactyly IEA IEA OMIM-CS:skeletalfeet > BRACHYDACTYLY OMIM:602531 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602531 GRANGE SYNDROME HP:0001159 Syndactyly IEA IEA OMIM-CS:skeletalfeet > SYNDACTYLY OMIM:602531 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602531 GRANGE SYNDROME HP:0001156 Brachydactyly IEA IEA OMIM-CS:skeletalhands > BRACHYDACTYLY OMIM:602531 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602531 GRANGE SYNDROME HP:0001159 Syndactyly IEA IEA OMIM-CS:skeletalhands > SYNDACTYLY OMIM:602531 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602531 GRANGE SYNDROME HP:0002757 Recurrent fractures IEA IEA OMIM-CS:skeletallimbs > MULTIPLE FRACTURES (WITH MINIMAL TRAUMA) OMIM:602531 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:210200 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:210200 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:210200 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:210200 HPO:skoehler 13.07.2017 ..........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616734 SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 HP:0000767 Pectus excavatum IEA IEA rare OMIM-CS:chestexternalfeatures > PECTUS EXCAVATUM, MILD (IN SOME PATIENTS) OMIM:616734 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616734 SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 HP:0000475 Broad neck IEA IEA OMIM-CS:headandneckneck > WIDE NECK OMIM:616734 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616734 SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 HP:0000670 Carious teeth IEA IEA OMIM-CS:headandneckteeth > TOOTH DECAY OMIM:616734 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616734 SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:616734 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616734 SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 HP:0002079 Hypoplasia of the corpus callosum IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOPLASIA OF CORPUS CALLOSUM (IN HOMOZYGOTES) OMIM:616734 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616734 SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA, MILD OMIM:616734 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616734 SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 HP:0001250 Seizures IEA IEA OMIM-CS:neurologiccentralnervoussystem > SEIZURES (IN HOMOZYGOTES) OMIM:616734 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615112 UROFACIAL SYNDROME 2 HP:0000012 Urinary urgency IEA IEA OMIM-CS:genitourinarybladder > OVERACTIVE BLADDER OMIM:615112 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616549 KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:616549 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613953 IMMUNODEFICIENCY 51 HP:0002205 Recurrent respiratory infections IEA IEA rare OMIM-CS:respiratory > RECURRENT RESPIRATORY INFECTIONS (IN SOME PATIENTS) OMIM:613953 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604757 CRANIOSYNOSTOSIS 2 HP:0000540 Hypermetropia IEA IEA rare OMIM-CS:headandneckeyes > HYPEROPIA (IN SOME PATIENTS) OMIM:604757 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604757 CRANIOSYNOSTOSIS 2 HP:0000601 Hypotelorism IEA IEA rare OMIM-CS:headandneckeyes > HYPOTELORISM (IN SOME PATIENTS) OMIM:604757 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604757 CRANIOSYNOSTOSIS 2 HP:0000545 Myopia IEA IEA rare OMIM-CS:headandneckeyes > MYOPIA (IN SOME PATIENTS) OMIM:604757 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604757 CRANIOSYNOSTOSIS 2 HP:0001123 Visual field defect IEA IEA rare OMIM-CS:headandneckeyes > VISUAL FIELD DEFECTS (RARE) OMIM:604757 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604757 CRANIOSYNOSTOSIS 2 HP:0002007 Frontal bossing IEA IEA OMIM-CS:headandneckface > FRONTAL BOSSING OMIM:604757 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604757 CRANIOSYNOSTOSIS 2 HP:0000248 Brachycephaly IEA IEA OMIM-CS:headandneckhead > BRACHYCEPHALY OMIM:604757 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604757 CRANIOSYNOSTOSIS 2 HP:0001363 Craniosynostosis IEA IEA OMIM-CS:headandneckhead > CRANIOSYNOSTOSIS OMIM:604757 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604757 CRANIOSYNOSTOSIS 2 HP:0000243 Trigonocephaly IEA IEA OMIM-CS:headandneckhead > TRIGONOCEPHALY OMIM:604757 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604757 CRANIOSYNOSTOSIS 2 HP:0000244 Brachyturricephaly IEA IEA OMIM-CS:headandneckhead > TURRIBRACHYCEPHALY OMIM:604757 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604757 CRANIOSYNOSTOSIS 2 HP:0000262 Turricephaly IEA IEA OMIM-CS:headandneckhead > TURRICEPHALY OMIM:604757 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604757 CRANIOSYNOSTOSIS 2 HP:0000185 Cleft soft palate IEA IEA rare OMIM-CS:headandneckmouth > CLEFT SOFT PALATE (RARE) OMIM:604757 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604757 CRANIOSYNOSTOSIS 2 HP:0011069 Increased number of teeth IEA IEA rare OMIM-CS:headandneckteeth > SUPERNUMERARY TEETH (RARE) OMIM:604757 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604757 CRANIOSYNOSTOSIS 2 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:604757 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604757 CRANIOSYNOSTOSIS 2 HP:0002315 Headache IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > HEADACHES, SEVERE (IN SOME PATIENTS) OMIM:604757 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604757 CRANIOSYNOSTOSIS 2 HP:0001249 Intellectual disability IEA IEA NOT NOT OMIM-CS:neurologiccentralnervoussystem > NORMAL INTELLIGENCE OMIM:604757 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604757 CRANIOSYNOSTOSIS 2 HP:0001250 Seizures IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > SEIZURES (IN SOME PATIENTS) OMIM:604757 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604757 CRANIOSYNOSTOSIS 2 HP:0001156 Brachydactyly IEA IEA rare OMIM-CS:skeletalhands > BRACHYDACTYLY (IN SOME PATIENTS) OMIM:604757 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604757 CRANIOSYNOSTOSIS 2 HP:0001199 Triphalangeal thumb IEA IEA rare OMIM-CS:skeletalhands > TRIPHALANGEAL THUMB (RARE) OMIM:604757 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604757 CRANIOSYNOSTOSIS 2 HP:0011318 Bicoronal synostosis IEA IEA OMIM-CS:skeletalskull > BICORONAL SYNOSTOSIS OMIM:604757 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604757 CRANIOSYNOSTOSIS 2 HP:0011315 Unicoronal synostosis IEA IEA OMIM-CS:skeletalskull > UNILATERAL CORONAL SUTURE SYNOSTOSIS OMIM:604757 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:201470 ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF HP:0000590 Progressive external ophthalmoplegia IEA IEA rare OMIM-CS:headandneckeyes > EXTERNAL OPHTHALMOPLEGIA, PROGRESSIVE (RARE) OMIM:201470 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:201470 ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:201470 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:201470 ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:201470 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616457 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 HP:0001903 Anemia IEA IEA OMIM-CS:hematology > ANEMIA OMIM:616457 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616457 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 HP:0003676 Progressive IEA IEA OMIM-CS:miscellaneous > PROGRESSIVE DISORDER OMIM:616457 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616457 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 HP:0002376 Developmental regression IEA IEA OMIM-CS:neurologiccentralnervoussystem > DEVELOPMENTAL REGRESSION (AFTER SEIZURE ONSET) OMIM:616457 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616457 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 HP:0200134 Epileptic encephalopathy IEA IEA OMIM-CS:neurologiccentralnervoussystem > EPILEPTIC ENCEPHALOPATHY OMIM:616457 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616457 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:616457 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616457 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 HP:0002465 Poor speech IEA IEA OMIM-CS:neurologiccentralnervoussystem > POOR SPEECH OMIM:616457 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616457 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 HP:0002133 Status epilepticus IEA IEA OMIM-CS:neurologiccentralnervoussystem > STATUS EPILEPTICUS OMIM:616457 HPO:skoehler 13.07.2017 ..................filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:212138 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:212138 HPO:skoehler 13.07.2017 ...........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615273 CONGENITAL DISORDER OF DEGLYCOSYLATION HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:615273 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611762 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 HP:0000988 Skin rash IEA IEA OMIM-CS:skinnailshairskin > RASH, EPISODIC OMIM:611762 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:223370 DUBOWITZ SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:223370 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:184252 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE HP:0003037 Enlarged joints IEA IEA rare OMIM-CS:skeletallimbs > PROMINENT JOINTS (IN SOME PATIENTS) OMIM:184252 HPO:skoehler 13.07.2017 ........ ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614882 PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) HP:0000494 Downslanted palpebral fissures IEA IEA OMIM-CS:headandneckeyes > DOWNWARD-SLANTING PALPEBRAL FISSURES OMIM:614882 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614882 PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) HP:0000347 Micrognathia IEA IEA OMIM-CS:headandneckface > MICROGNATHIA OMIM:614882 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614882 PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) HP:0000218 High palate IEA IEA OMIM-CS:headandneckmouth > HIGH-ARCHED PALATE OMIM:614882 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614882 PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) HP:0000448 Prominent nose IEA IEA OMIM-CS:headandnecknose > PROMINENT NOSE OMIM:614882 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614882 PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:614882 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614882 PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) HP:0001284 Areflexia IEA IEA OMIM-CS:neurologicperipheralnervoussystem > ABSENT DEEP TENDON REFLEXES OMIM:614882 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614882 PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) HP:0001558 Decreased fetal movement IEA IEA OMIM-CS:prenatalmanifestationsmovement > DECREASED FETAL MOVEMENT OMIM:614882 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300209 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 HP:0030799 Scaphocephaly IEA IEA OMIM-CS:headandneckhead > SCAPHOCEPHALY OMIM:300209 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300209 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:300209 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:309610 PRIETO X-LINKED MENTAL RETARDATION SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:309610 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615809 PONTOCEREBELLAR HYPOPLASIA, TYPE 9 HP:0000377 Abnormality of the pinna IEA IEA OMIM-CS:headandneckears > ABNORMALLY SHAPED EARS (FAMILY A) OMIM:615809 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615809 PONTOCEREBELLAR HYPOPLASIA, TYPE 9 HP:0000494 Downslanted palpebral fissures IEA IEA OMIM-CS:headandneckeyes > DOWNSLANTING PALPEBRAL FISSURES (FAMILY A) OMIM:615809 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615809 PONTOCEREBELLAR HYPOPLASIA, TYPE 9 HP:0000341 Narrow forehead IEA IEA OMIM-CS:headandneckface > BITEMPORAL NARROWING (FAMILY A) OMIM:615809 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615809 PONTOCEREBELLAR HYPOPLASIA, TYPE 9 HP:0000297 Facial hypotonia IEA IEA OMIM-CS:headandneckface > HYPOTONIC FACIES (FAMILY A) OMIM:615809 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615809 PONTOCEREBELLAR HYPOPLASIA, TYPE 9 HP:0011800 Midface retrusion IEA IEA OMIM-CS:headandneckface > MIDFACE HYPOPLASIA (FAMILY A) OMIM:615809 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615809 PONTOCEREBELLAR HYPOPLASIA, TYPE 9 HP:0000158 Macroglossia IEA IEA OMIM-CS:headandneckmouth > MACROGLOSSIA (FAMILY A) OMIM:615809 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615809 PONTOCEREBELLAR HYPOPLASIA, TYPE 9 HP:0000188 Short upper lip IEA IEA OMIM-CS:headandneckmouth > SHORT UPPER LIP (FAMILY A) OMIM:615809 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615809 PONTOCEREBELLAR HYPOPLASIA, TYPE 9 HP:0003477 Peripheral axonal neuropathy IEA IEA OMIM-CS:neurologicperipheralnervoussystem > AXONAL NEUROPATHY (FAMILY A) OMIM:615809 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615866 MENTAL RETARDATION, AUTOSOMAL DOMINANT 27 HP:0004322 Short stature IEA IEA OMIM-CS:growthheight > SHORT STATURE OMIM:615866 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615866 MENTAL RETARDATION, AUTOSOMAL DOMINANT 27 HP:0001511 Intrauterine growth retardation IEA IEA OMIM-CS:growthother > INTRAUTERINE GROWTH RETARDATION OMIM:615866 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615866 MENTAL RETARDATION, AUTOSOMAL DOMINANT 27 HP:0000232 Everted lower lip vermilion IEA IEA OMIM-CS:headandneckmouth > EVERTED LOWER LIP OMIM:615866 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615866 MENTAL RETARDATION, AUTOSOMAL DOMINANT 27 HP:0001256 Intellectual disability, mild IEA IEA OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION, MILD OMIM:615866 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615866 MENTAL RETARDATION, AUTOSOMAL DOMINANT 27 HP:0030084 Clinodactyly IEA IEA OMIM-CS:skeletalfeet > CLINODACTYLY OMIM:615866 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615866 MENTAL RETARDATION, AUTOSOMAL DOMINANT 27 HP:0030084 Clinodactyly IEA IEA OMIM-CS:skeletalhands > CLINODACTYLY OMIM:615866 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0011968 Feeding difficulties IEA IEA OMIM-CS:abdomengastrointestinal > FEEDING DIFFICULTIES OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0001631 Atrial septal defect IEA IEA OMIM-CS:cardiovascularheart > ATRIAL SEPTAL DEFECT OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0001643 Patent ductus arteriosus IEA IEA OMIM-CS:cardiovascularvascular > PATENT DUCTUS ARTERIOSUS OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0000126 Hydronephrosis IEA IEA OMIM-CS:genitourinarykidneys > HYDRONEPHROSIS OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0000110 Renal dysplasia IEA IEA OMIM-CS:genitourinarykidneys > RENAL DYSPLASIA OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0000369 Low-set ears IEA IEA OMIM-CS:headandneckears > LOW-SET EARS OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0000358 Posteriorly rotated ears IEA IEA OMIM-CS:headandneckears > POSTERIORLY ROTATED EARS OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0000483 Astigmatism IEA IEA OMIM-CS:headandneckeyes > ASTIGMATISM OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0000518 Cataract IEA IEA OMIM-CS:headandneckeyes > CATARACTS OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0000540 Hypermetropia IEA IEA OMIM-CS:headandneckeyes > HYPERMETROPIA OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0000545 Myopia IEA IEA OMIM-CS:headandneckeyes > MYOPIA OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0012745 Short palpebral fissure IEA IEA OMIM-CS:headandneckeyes > SHORT PALPEBRAL FISSURES OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0000486 Strabismus IEA IEA OMIM-CS:headandneckeyes > STRABISMUS OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0000341 Narrow forehead IEA IEA OMIM-CS:headandneckface > BITEMPORAL NARROWING OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0000324 Facial asymmetry IEA IEA OMIM-CS:headandneckface > FACIAL ASYMMETRY OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0000343 Long philtrum IEA IEA OMIM-CS:headandneckface > LONG PHILTRUM OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0011220 Prominent forehead IEA IEA OMIM-CS:headandneckface > PROMINENT FOREHEAD OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0000319 Smooth philtrum IEA IEA OMIM-CS:headandneckface > SMOOTH PHILTRUM OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0000248 Brachycephaly IEA IEA OMIM-CS:headandneckhead > BRACHYCEPHALY OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0000431 Wide nasal bridge IEA IEA OMIM-CS:headandnecknose > BROAD NASAL BRIDGE OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0000414 Bulbous nose IEA IEA OMIM-CS:headandnecknose > BULBOUS NOSE OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0005280 Depressed nasal bridge IEA IEA OMIM-CS:headandnecknose > LOW NASAL BRIDGE OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0000448 Prominent nose IEA IEA OMIM-CS:headandnecknose > PROMINENT NOSE OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0000164 Abnormality of the dentition IEA IEA OMIM-CS:headandneckteeth > TOOTH ABNORMALITIES OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0003812 Phenotypic variability IEA IEA OMIM-CS:miscellaneous > HIGHLY VARIABLE PHENOTYPE OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0000750 Delayed speech and language development IEA IEA OMIM-CS:neurologiccentralnervoussystem > SPEECH DELAY OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0002098 Respiratory distress HP:0003623 Neonatal onset IEA IEA OMIM-CS:respiratory > BREATHING DIFFICULTIES, NEONATAL OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0001388 Joint laxity IEA IEA OMIM-CS:skeletal > JOINT LAXITY OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0001761 Pes cavus IEA IEA OMIM-CS:skeletalfeet > PES CAVUS OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0001773 Short foot IEA IEA OMIM-CS:skeletalfeet > SMALL FEET OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0200055 Small hand IEA IEA OMIM-CS:skeletalhands > SMALL HANDS OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0001182 Tapered finger IEA IEA OMIM-CS:skeletalhands > TAPERING FINGERS OMIM:300968 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED HP:0002827 Hip dislocation IEA IEA OMIM-CS:skeletalpelvis > HIP DISLOCATION OMIM:300968 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611376 MUNGAN SYNDROME HP:0030996 Megaduodenum IEA IEA OMIM-CS:abdomengastrointestinal > MEGADUODENUM OMIM:611376 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617024 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H HP:0000540 Hypermetropia IEA IEA rare OMIM-CS:headandneckeyes > HYPEROPIA (IN SOME PATIENTS) OMIM:617024 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617024 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H HP:0000662 Nyctalopia IEA IEA OMIM-CS:headandneckeyes > NIGHT BLINDNESS (CHILDHOOD ONSET) OMIM:617024 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617024 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H HP:0000613 Photophobia IEA IEA OMIM-CS:headandneckeyes > PHOTOPHOBIA (IN OLDER PATIENTS) OMIM:617024 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617024 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617024 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614052 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 HP:0002578 Gastroparesis IEA IEA OMIM-CS:abdomengastrointestinal > DELAYED GASTRIC EMPTYING OMIM:614052 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614052 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 HP:0000463 Anteverted nares IEA IEA OMIM-CS:headandnecknose > UPTURNED NARES OMIM:614052 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614052 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:614052 HPO:skoehler 13.07.2017 .......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613001 ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS HP:0001629 Ventricular septal defect IEA IEA OMIM-CS:cardiovascularheart > VENTRICULAR SEPTAL DEFECT (VSD) OMIM:613001 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613001 ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS HP:0001442 Somatic mosaicism IEA IEA OMIM-CS:inheritance > SOMATIC MOSAICISM OMIM:613001 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:211750 C SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:211750 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300864 CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:300864 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617023 RETINITIS PIGMENTOSA 75 HP:0000545 Myopia IEA IEA OMIM-CS:headandneckeyes > MYOPIA (IN 1 PATIENT) OMIM:617023 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617023 RETINITIS PIGMENTOSA 75 HP:0000662 Nyctalopia IEA IEA OMIM-CS:headandneckeyes > NIGHT BLINDNESS OMIM:617023 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617023 RETINITIS PIGMENTOSA 75 HP:0007994 Peripheral visual field loss IEA IEA OMIM-CS:headandneckeyes > TUNNEL VISION OMIM:617023 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617023 RETINITIS PIGMENTOSA 75 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617023 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:609621 SHORT QT SYNDROME 2 HP:0001662 Bradycardia IEA IEA OMIM-CS:cardiovascularheart > BRADYCARDIA OMIM:609621 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:609621 SHORT QT SYNDROME 2 HP:0001663 Ventricular fibrillation IEA IEA rare OMIM-CS:cardiovascularheart > VENTRICULAR FIBRILLATION (IN SOME PATIENTS) OMIM:609621 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612337 MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:612337 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612337 MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:612337 HPO:skoehler 13.07.2017 .........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617228 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 HP:0011968 Feeding difficulties IEA IEA OMIM-CS:abdomengastrointestinal > FEEDING PROBLEMS OMIM:617228 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617228 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 HP:0001639 Hypertrophic cardiomyopathy IEA IEA OMIM-CS:cardiovascularheart > HYPERTROPHIC CARDIOMYOPATHY OMIM:617228 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617228 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 HP:0030682 Left ventricular noncompaction IEA IEA OMIM-CS:cardiovascularheart > LEFT VENTRICULAR NONCOMPACTION OMIM:617228 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617228 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 HP:0001508 Failure to thrive IEA IEA OMIM-CS:growthother > FAILURE TO THRIVE OMIM:617228 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617228 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 HP:0000518 Cataract IEA IEA rare OMIM-CS:headandneckeyes > CATARACT (IN SOME PATIENTS) OMIM:617228 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617228 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 HP:0000252 Microcephaly IEA IEA rare OMIM-CS:headandneckhead > MICROCEPHALY (IN SOME PATIENTS) OMIM:617228 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617228 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617228 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617228 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 HP:0003348 Hyperalaninemia IEA IEA OMIM-CS:laboratoryabnormalities > INCREASED SERUM ALANINE OMIM:617228 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617228 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 HP:0002151 Increased serum lactate IEA IEA OMIM-CS:laboratoryabnormalities > INCREASED SERUM LACTATE OMIM:617228 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617228 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 HP:0003128 Lactic acidosis IEA IEA OMIM-CS:metabolicfeatures > LACTIC ACIDOSIS OMIM:617228 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617228 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 HP:0003593 Infantile onset IEA IEA OMIM-CS:miscellaneous > ONSET IN INFANCY OMIM:617228 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617228 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:617228 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617228 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > GLOBAL DEVELOPMENTAL DELAY OMIM:617228 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617228 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 HP:0001276 Hypertonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPERTONIA OMIM:617228 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617228 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 HP:0001250 Seizures IEA IEA OMIM-CS:neurologiccentralnervoussystem > SEIZURES (IN MOST PATIENTS) OMIM:617228 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615009 SCHUURS-HOEIJMAKERS SYNDROME HP:0002019 Constipation IEA IEA OMIM-CS:abdomengastrointestinal > CONSTIPATION OMIM:615009 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615009 SCHUURS-HOEIJMAKERS SYNDROME HP:0011968 Feeding difficulties IEA IEA OMIM-CS:abdomengastrointestinal > FEEDING DIFFICULTIES OMIM:615009 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615009 SCHUURS-HOEIJMAKERS SYNDROME HP:0001671 Abnormality of the cardiac septa IEA IEA rare OMIM-CS:cardiovascularheart > SEPTAL DEFECTS (IN SOME PATIENTS) OMIM:615009 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615009 SCHUURS-HOEIJMAKERS SYNDROME HP:0000545 Myopia IEA IEA OMIM-CS:headandneckeyes > MYOPIA OMIM:615009 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615009 SCHUURS-HOEIJMAKERS SYNDROME HP:0000639 Nystagmus IEA IEA OMIM-CS:headandneckeyes > NYSTAGMUS OMIM:615009 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615009 SCHUURS-HOEIJMAKERS SYNDROME HP:0000508 Ptosis IEA IEA OMIM-CS:headandneckeyes > PTOSIS OMIM:615009 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615009 SCHUURS-HOEIJMAKERS SYNDROME HP:0000486 Strabismus IEA IEA OMIM-CS:headandneckeyes > STRABISMUS OMIM:615009 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615009 SCHUURS-HOEIJMAKERS SYNDROME HP:0002714 Downturned corners of mouth IEA IEA OMIM-CS:headandneckmouth > DOWNTURNED CORNERS OF THE MOUTH OMIM:615009 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615009 SCHUURS-HOEIJMAKERS SYNDROME HP:0000219 Thin upper lip vermilion IEA IEA OMIM-CS:headandneckmouth > THIN UPPER LIP OMIM:615009 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615009 SCHUURS-HOEIJMAKERS SYNDROME HP:0000154 Wide mouth IEA IEA OMIM-CS:headandneckmouth > WIDE MOUTH OMIM:615009 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615009 SCHUURS-HOEIJMAKERS SYNDROME HP:0000699 Diastema IEA IEA OMIM-CS:headandneckteeth > DIASTEMA OMIM:615009 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615009 SCHUURS-HOEIJMAKERS SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:615009 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615009 SCHUURS-HOEIJMAKERS SYNDROME HP:0000718 Aggressive behavior IEA IEA OMIM-CS:neurologicbehavioralpsychiatricmanifestations > AGGRESSIVE BEHAVIOR OMIM:615009 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615009 SCHUURS-HOEIJMAKERS SYNDROME HP:0001321 Cerebellar hypoplasia IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR HYPOPLASIA (IN SOME PATIENTS) OMIM:615009 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615009 SCHUURS-HOEIJMAKERS SYNDROME HP:0000750 Delayed speech and language development IEA IEA OMIM-CS:neurologiccentralnervoussystem > LANGUAGE DELAY OMIM:615009 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615300 PERRAULT SYNDROME 4 HP:0000013 Hypoplasia of the uterus IEA IEA OMIM-CS:genitourinaryinternalgenitaliafemale > SMALL UTERUS OMIM:615300 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616648 OPTIC ATROPHY 8 HP:0001653 Mitral regurgitation IEA IEA rare OMIM-CS:cardiovascularheart > MITRAL VALVE INSUFFICIENCY (IN SOME PATIENTS) OMIM:616648 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616648 OPTIC ATROPHY 8 HP:0000572 Visual loss IEA IEA OMIM-CS:headandneckeyes > VISUAL LOSS OMIM:616648 HPO:skoehler 13.07.2017 ..........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616625 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:616625 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616625 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W HP:0003828 Variable expressivity IEA IEA OMIM-CS:miscellaneous > VARIABLE SEVERITY OMIM:616625 HPO:skoehler 13.07.2017 ........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617182 LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA HP:0011675 Arrhythmia IEA IEA rare OMIM-CS:cardiovascularheart > ARRHYTHMIAS (IN SOME PATIENTS) OMIM:617182 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617182 LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA HP:0001662 Bradycardia IEA IEA rare OMIM-CS:cardiovascularheart > BRADYCARDIA (IN SOME PATIENTS) OMIM:617182 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617182 LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA HP:0011704 Sick sinus syndrome IEA IEA rare OMIM-CS:cardiovascularheart > SICK SINUS SYNDROME (IN SOME PATIENTS) OMIM:617182 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617182 LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617182 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617182 LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA HP:0001290 Generalized hypotonia IEA IEA rare OMIM-CS:musclesofttissue > HYPOTONIA (IN SOME PATIENTS) OMIM:617182 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617182 LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA HP:0007018 Attention deficit hyperactivity disorder IEA IEA OMIM-CS:neurologicbehavioralpsychiatricmanifestations > ATTENTION DEFICIT OMIM:617182 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617182 LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA HP:0000752 Hyperactivity IEA IEA OMIM-CS:neurologicbehavioralpsychiatricmanifestations > HYPERACTIVITY OMIM:617182 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617182 LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA HP:0001263 Global developmental delay IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > DEVELOPMENTAL DELAY (IN SOME PATIENTS) OMIM:617182 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617182 LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA HP:0001249 Intellectual disability IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY (IN SOME PATIENTS) OMIM:617182 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617182 LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA HP:0000750 Delayed speech and language development IEA IEA OMIM-CS:neurologiccentralnervoussystem > SPEECH DELAY OMIM:617182 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604290 ACERULOPLASMINEMIA HP:0040303 Decreased serum iron IEA IEA OMIM-CS:laboratoryabnormalities > DECREASED SERUM IRON OMIM:604290 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604290 ACERULOPLASMINEMIA HP:0025498 Aceruloplasminemia IEA IEA OMIM-CS:preferredtitle > ACERULOPLASMINEMIA OMIM:604290 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:164400 SPINOCEREBELLAR ATAXIA 1 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:164400 HPO:skoehler 13.07.2017 .. ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602501 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:602501 HPO:skoehler 13.07.2017 .......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614749 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:614749 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614749 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 HP:0011326 Anterior plagiocephaly IEA IEA rare OMIM-CS:skeletalskull > CORONAL SYNOSTOSIS (1 PATIENT) OMIM:614749 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:180750 ROBINOW-SORAUF SYNDROME HP:0012368 Flat face IEA IEA OMIM-CS:facies > FLAT FACIES OMIM:180750 HPO:skoehler 13.07.2017 .......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologicperipheralnervoussystem > HYPOTONIA OMIM:223900 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615159 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:615159 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615877 MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME HP:0000518 Cataract IEA IEA OMIM-CS:headandneckeyes > CATARACT OMIM:615877 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615877 MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME HP:0009918 Ectopia pupillae IEA IEA OMIM-CS:headandneckeyes > CORECTOPIA OMIM:615877 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615877 MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME HP:0000639 Nystagmus IEA IEA OMIM-CS:headandneckeyes > NYSTAGMUS OMIM:615877 HPO:skoehler 13.07.2017 ..........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616818 IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3 HP:0003676 Progressive IEA IEA OMIM-CS:miscellaneous > PROGRESSIVE DISORDER OMIM:616818 HPO:skoehler 13.07.2017 ........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:136880 FUNDUS ALBIPUNCTATUS HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:136880 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:136880 FUNDUS ALBIPUNCTATUS HP:0030642 Fundus albipunctatus IEA IEA OMIM-CS:preferredtitle > FUNDUS ALBIPUNCTATUS OMIM:136880 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611544 CATARACT 17, MULTIPLE TYPES HP:0000646 Amblyopia IEA IEA rare OMIM-CS:headandneckeyes > AMBLYOPIA (IN SOME PATIENTS) OMIM:611544 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611544 CATARACT 17, MULTIPLE TYPES HP:0000482 Microcornea IEA IEA rare OMIM-CS:headandneckeyes > MICROCORNEA (IN SOME PATIENTS) OMIM:611544 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611544 CATARACT 17, MULTIPLE TYPES HP:0000639 Nystagmus IEA IEA OMIM-CS:headandneckeyes > NYSTAGMUS OMIM:611544 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611544 CATARACT 17, MULTIPLE TYPES HP:0010693 Pulverulent cataract IEA IEA OMIM-CS:headandneckeyes > PULVERULENT CATARACT OMIM:611544 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611544 CATARACT 17, MULTIPLE TYPES HP:0007663 Reduced visual acuity IEA IEA OMIM-CS:headandneckeyes > REDUCED VISUAL ACUITY OMIM:611544 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611544 CATARACT 17, MULTIPLE TYPES HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:611544 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:607278 OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO HP:0000767 Pectus excavatum IEA IEA rare OMIM-CS:chestexternalfeatures > PECTUS EXCAVATUM (IN SOME PATIENTS) OMIM:607278 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:607278 OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:607278 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:607278 OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO HP:0003038 Fibular hypoplasia IEA IEA rare OMIM-CS:skeletallimbs > FIBULAR HYPOPLASIA (IN SOME PATIENTS) OMIM:607278 HPO:skoehler 13.07.2017 ...........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615688 POLYARTERITIS NODOSA, CHILDHOOD-ONSET HP:0002027 Abdominal pain IEA IEA OMIM-CS:abdomengastrointestinal > GASTROINTESTINAL PAIN OMIM:615688 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615688 POLYARTERITIS NODOSA, CHILDHOOD-ONSET HP:0025343 Lupus anticoagulant IEA IEA rare OMIM-CS:hematology > LUPUS ANTICOAGULANT (IN SOME PATIENTS) OMIM:615688 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615688 POLYARTERITIS NODOSA, CHILDHOOD-ONSET HP:0030880 Raynaud phenomenon IEA IEA OMIM-CS:neurologicperipheralnervoussystem > RAYNAUD PHENOMENON OMIM:615688 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617100 FAMILIAL ADENOMATOUS POLYPOSIS 4 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617100 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617100 FAMILIAL ADENOMATOUS POLYPOSIS 4 HP:0009592 Astrocytoma IEA IEA OMIM-CS:neoplasia > ASTROCYTOMA OMIM:617100 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617100 FAMILIAL ADENOMATOUS POLYPOSIS 4 HP:0012126 Stomach cancer IEA IEA OMIM-CS:neoplasia > GASTRIC CANCER OMIM:617100 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617100 FAMILIAL ADENOMATOUS POLYPOSIS 4 HP:0000854 Thyroid adenoma IEA IEA OMIM-CS:neoplasia > THYROID ADENOMA OMIM:617100 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614541 CHROMOSOME 16Q22 DELETION SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:614541 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616277 MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:616277 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616277 MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY HP:0001332 Dystonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > DYSTONIA OMIM:616277 HPO:skoehler 13.07.2017 .......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617252 UNCOMBABLE HAIR SYNDROME 3 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617252 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617252 UNCOMBABLE HAIR SYNDROME 3 HP:0002235 Pili canaliculi IEA IEA OMIM-CS:skinnailshairhair > PILI CANALICULI (SEEN ON SCANNING EM OF HAIR SHAFT CROSS-SECTION) OMIM:617252 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617252 UNCOMBABLE HAIR SYNDROME 3 HP:0030056 Uncombable hair IEA IEA OMIM-CS:skinnailshairhair > UNCOMBABLE HAIR OMIM:617252 HPO:skoehler 13.07.2017 .......filter this Sun Sep 17 00:00:00 CEST 2017 OMIM:233700 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,TYPE I HP:0100658 Cellulitis TAS TAS OMIM:233700 HPO:probinson 2017-09-17 ..........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612075 MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:612075 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616459 AL-RAQAD SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:616459 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:177900 PSORIASIS 1, SUSCEPTIBILITY TO HP:0025088 Onychomadesis IEA IEA OMIM-CS:skinnailshairnails > ONYCHOMADESIS OMIM:177900 HPO:skoehler 13.07.2017 ...... .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611721 COMBINED SAPOSIN DEFICIENCY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:611721 HPO:skoehler 13.07.2017 ........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616355 MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 HP:0000297 Facial hypotonia IEA IEA OMIM-CS:headandneckface > HYPOTONIC FACIES OMIM:616355 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616355 MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:616355 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA (IN MALES) OMIM:300373 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:257220 NIEMANN-PICK DISEASE, TYPE C1 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:257220 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614563 MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 HP:0001999 Abnormal facial shape IEA IEA rare OMIM-CS:headandneckface > FACIAL DYSMORPHISM, MILD (IN SOME PATIENTS) OMIM:614563 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300659 MENTAL RETARDATION, X-LINKED 93 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:300659 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613909 SPINOCEREBELLAR ATAXIA 32 HP:0000027 Azoospermia IEA IEA OMIM-CS:genitourinaryinternalgenitaliamale > AZOOSPERMIA OMIM:613909 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613909 SPINOCEREBELLAR ATAXIA 32 HP:0000789 Infertility IEA IEA OMIM-CS:genitourinaryinternalgenitaliamale > INFERTILITY OMIM:613909 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613909 SPINOCEREBELLAR ATAXIA 32 HP:0000029 Testicular atrophy IEA IEA OMIM-CS:genitourinaryinternalgenitaliamale > TESTICULAR ATROPHY OMIM:613909 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613909 SPINOCEREBELLAR ATAXIA 32 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:613909 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613909 SPINOCEREBELLAR ATAXIA 32 HP:0001251 Ataxia IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR ATAXIA OMIM:613909 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613909 SPINOCEREBELLAR ATAXIA 32 HP:0001272 Cerebellar atrophy IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR ATROPHY OMIM:613909 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616922 STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 HP:0003680 Nonprogressive IEA IEA OMIM-CS:miscellaneous > NONPROGRESSIVE OMIM:616922 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:601559 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601559 STUVE-WIEDEMANN SYNDROME HP:0003037 Enlarged joints IEA IEA OMIM-CS:skeletallimbs > PROMINENT JOINTS (IN OLDER CHILDREN) OMIM:601559 HPO:skoehler 13.07.2017 .......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614856 OSTEOGENESIS IMPERFECTA, TYPE XIII HP:0001290 Generalized hypotonia IEA IEA rare OMIM-CS:musclesofttissue > HYPOTONIA (IN SOME PATIENTS) OMIM:614856 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617223 SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED HP:0001685 Myocardial fibrosis IEA IEA OMIM-CS:cardiovascularheart > MYOCARDIAL FIBROSIS OMIM:617223 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617223 SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617223 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:274270 DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:274270 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616852 MYOPATHY, SCAPULOHUMEROPERONEAL HP:0003677 Slow progression IEA IEA OMIM-CS:miscellaneous > SLOWLY PROGRESSIVE OMIM:616852 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616852 MYOPATHY, SCAPULOHUMEROPERONEAL HP:0003828 Variable expressivity IEA IEA OMIM-CS:miscellaneous > VARIABLE SEVERITY OMIM:616852 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616852 MYOPATHY, SCAPULOHUMEROPERONEAL HP:0009025 Increased connective tissue IEA IEA OMIM-CS:musclesofttissue > INCREASED CONNECTIVE TISSUE OMIM:616852 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616852 MYOPATHY, SCAPULOHUMEROPERONEAL HP:0003202 Skeletal muscle atrophy IEA IEA OMIM-CS:musclesofttissue > MUSCLE ATROPHY OMIM:616852 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616852 MYOPATHY, SCAPULOHUMEROPERONEAL HP:0001284 Areflexia IEA IEA OMIM-CS:neurologicperipheralnervoussystem > AREFLEXIA OMIM:616852 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616852 MYOPATHY, SCAPULOHUMEROPERONEAL HP:0001265 Hyporeflexia IEA IEA OMIM-CS:neurologicperipheralnervoussystem > HYPOREFLEXIA OMIM:616852 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616852 MYOPATHY, SCAPULOHUMEROPERONEAL HP:0009130 Hand muscle atrophy IEA IEA OMIM-CS:skeletalhands > HAND MUSCLE ATROPHY OMIM:616852 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616852 MYOPATHY, SCAPULOHUMEROPERONEAL HP:0031189 Wrist drop IEA IEA OMIM-CS:skeletalhands > WRIST DROP OMIM:616852 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616852 MYOPATHY, SCAPULOHUMEROPERONEAL HP:0003307 Hyperlordosis IEA IEA OMIM-CS:skeletalspine > LORDOSIS OMIM:616852 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616852 MYOPATHY, SCAPULOHUMEROPERONEAL HP:0002650 Scoliosis IEA IEA OMIM-CS:skeletalspine > SCOLIOSIS OMIM:616852 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601351 GROWTH RETARDATION, DEAFNESS, FEMORAL EPIPHYSEAL DYSPLASIA, AND LACRIMAL DUCT OBSTRUCTION HP:0004322 Short stature IEA IEA OMIM-CS:growthheight > SHORT STATURE OMIM:601351 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601351 GROWTH RETARDATION, DEAFNESS, FEMORAL EPIPHYSEAL DYSPLASIA, AND LACRIMAL DUCT OBSTRUCTION HP:0000307 Pointed chin IEA IEA OMIM-CS:headandneckface > POINTED CHIN OMIM:601351 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601351 GROWTH RETARDATION, DEAFNESS, FEMORAL EPIPHYSEAL DYSPLASIA, AND LACRIMAL DUCT OBSTRUCTION HP:0000325 Triangular face IEA IEA OMIM-CS:headandneckface > TRIANGULAR FACE OMIM:601351 HPO:skoehler 13.07.2017 ............filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613177 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC HP:0100539 Periorbital edema IEA IEA OMIM-CS:headandneckeyes > PERIORBITAL SWELLING OMIM:613177 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613177 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > LOW MUSCLE TONE OMIM:613177 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612965 46,XY SEX REVERSAL 3 HP:0008232 Elevated follicle stimulating hormone IEA IEA OMIM-CS:endocrinefeatures > ELEVATED FOLLICLE-STIMULATING HORMONE (FSH) OMIM:612965 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612965 46,XY SEX REVERSAL 3 HP:0011969 Elevated luteinizing hormone IEA IEA OMIM-CS:endocrinefeatures > ELEVATED LUTEINIZING HORMONE (LH) OMIM:612965 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612965 46,XY SEX REVERSAL 3 HP:0008665 Clitoral hypertrophy IEA IEA rare OMIM-CS:genitourinaryexternalgenitaliafemale > HYPERTROPHIC CLITORIS (IN SOME PATIENTS) OMIM:612965 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612965 46,XY SEX REVERSAL 3 HP:0000062 Ambiguous genitalia IEA IEA rare OMIM-CS:genitourinaryexternalgenitaliamale > AMBIGUOUS EXTERNAL GENITALIA (IN SOME PATIENTS) OMIM:612965 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612965 46,XY SEX REVERSAL 3 HP:0000808 Penoscrotal hypospadias IEA IEA OMIM-CS:genitourinaryexternalgenitaliamale > PENOSCROTAL HYPOSPADIAS OMIM:612965 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612965 46,XY SEX REVERSAL 3 HP:0000013 Hypoplasia of the uterus IEA IEA rare OMIM-CS:genitourinaryinternalgenitaliafemale > SMALL UTERUS (IN SOME PATIENTS) OMIM:612965 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:123500 CROUZON SYNDROME HP:0100621 Dysgerminoma IEA IEA OMIM-CS:genitourinaryinternalgenitaliafemale > DYSGERMINOMA (IN 1 PATIENT) OMIM:123500 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601353 BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND MENTAL RETARDATION HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:601353 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611174 HAMAMY SYNDROME HP:0000347 Micrognathia IEA IEA rare OMIM-CS:headandneckface > MICROGNATHIA, MILD (IN SOME PATIENTS) OMIM:611174 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608363 CHROMOSOME 22Q11.2 DUPLICATION SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:608363 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:603678 DEAFNESS, AUTOSOMAL RECESSIVE 14 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:603678 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616795 SPINOCEREBELLAR ATAXIA 42 HP:0003677 Slow progression IEA IEA OMIM-CS:miscellaneous > SLOW PROGRESSION OMIM:616795 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616795 SPINOCEREBELLAR ATAXIA 42 HP:0001347 Hyperreflexia IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > HYPERREFLEXIA (IN SOME PATIENTS) OMIM:616795 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616795 SPINOCEREBELLAR ATAXIA 42 HP:0031166 Eyelid myokymia IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > MYOKYMIA ORBICULARIS (IN SOME PATIENTS) OMIM:616795 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616795 SPINOCEREBELLAR ATAXIA 42 HP:0001337 Tremor IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > TREMOR (IN SOME PATIENTS) OMIM:616795 HPO:skoehler 13.07.2017 .......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615696 DOWLING-DEGOS DISEASE 4 HP:0025092 Epidermal acanthosis IEA IEA OMIM-CS:skinnailshairskinhistology > ACANTHOSIS, MILD OMIM:615696 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614083 FANCONI ANEMIA, COMPLEMENTATION GROUP L HP:0040012 Chromosome breakage IEA IEA OMIM-CS:laboratoryabnormalities > INCREASED CHROMOSOMAL BREAKAGE OMIM:614083 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300200 ADRENAL HYPOPLASIA, CONGENITAL HP:0000826 Precocious puberty IEA IEA OMIM-CS:endocrinefeatures > PRECOCIOUS PUBERTY OMIM:300200 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300200 ADRENAL HYPOPLASIA, CONGENITAL HP:0000027 Azoospermia IEA IEA OMIM-CS:genitourinaryinternalgenitaliamale > AZOOSPERMIA OMIM:300200 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300200 ADRENAL HYPOPLASIA, CONGENITAL HP:0000798 Oligospermia IEA IEA OMIM-CS:genitourinaryinternalgenitaliamale > OLIGOSPERMIA OMIM:300200 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:203740 ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neuro > HYPOTONIA OMIM:203740 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614526 CHROMOSOME 17Q12 DUPLICATION SYNDROME HP:0000297 Facial hypotonia IEA IEA rare OMIM-CS:headandneckface > HYPOTONIC FACIES (RARE) OMIM:614526 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614526 CHROMOSOME 17Q12 DUPLICATION SYNDROME HP:0001156 Brachydactyly IEA IEA rare OMIM-CS:skeletalhands > BRACHYDACTYLY, MILD (RARE) OMIM:614526 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600092 CHONDRODYSPLASIA-PSEUDOHERMAPHRODITISM SYNDROME HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:600092 HPO:skoehler 13.07.2017 . .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:119100 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1 HP:0009460 Aplasia of the 3rd finger IEA IEA OMIM-CS:limbs > ABSENT MIDDLE FINGER OMIM:119100 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601198 HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 HP:0025425 Laryngospasm IEA IEA rare OMIM-CS:respiratorylarynx > LARYNGOSPASM (RARE) OMIM:601198 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610688 JOUBERT SYNDROME 6 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:610688 HPO:skoehler 13.07.2017 ...............filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:252650 MUCOLIPIDOSIS IV HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:252650 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613309 DIAMOND-BLACKFAN ANEMIA 10 HP:0000475 Broad neck IEA IEA rare OMIM-CS:headandneckneck > WIDE NECK (IN SOME PATIENTS) OMIM:613309 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613280 HYPERMANGANESEMIA WITH DYSTONIA 1 HP:0025196 Increased total iron binding capacity IEA IEA OMIM-CS:laboratoryabnormalities > INCREASED TOTAL IRON BINDING CAPACITY OMIM:613280 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613280 HYPERMANGANESEMIA WITH DYSTONIA 1 HP:0007010 Poor fine motor coordination IEA IEA OMIM-CS:neurologiccentralnervoussystem > FINE MOTOR IMPAIRMENT OMIM:613280 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:124000 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600145 SACRAL DEFECT WITH ANTERIOR MENINGOCELE HP:0025247 Dermoid cyst IEA IEA OMIM-CS:neurologiccentralnervoussystem > DERMOID CYST OMIM:600145 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600145 SACRAL DEFECT WITH ANTERIOR MENINGOCELE HP:0009790 Hemisacrum IEA IEA OMIM-CS:skeletalspine > HEMISACRUM OMIM:600145 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615528 PARKINSON DISEASE 19A, JUVENILE-ONSET HP:0003677 Slow progression IEA IEA OMIM-CS:miscellaneous > SLOWLY PROGRESSIVE (PARK19B) OMIM:615528 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615528 PARKINSON DISEASE 19A, JUVENILE-ONSET HP:0100543 Cognitive impairment IEA IEA OMIM-CS:neurologiccentralnervoussystem > COGNITIVE IMPAIRMENT (IN 1 PATIENT WITH PARK19A) OMIM:615528 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615528 PARKINSON DISEASE 19A, JUVENILE-ONSET HP:0000738 Hallucinations IEA IEA OMIM-CS:neurologiccentralnervoussystem > HALLUCINATIONS (IN 1 PATIENT WITH PARK19A) OMIM:615528 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615528 PARKINSON DISEASE 19A, JUVENILE-ONSET HP:0001257 Spasticity IEA IEA OMIM-CS:neurologiccentralnervoussystem > SPASTICITY (IN 1 PATIENT WITH PARK19A) OMIM:615528 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616866 SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 HP:0003577 Congenital onset IEA IEA OMIM-CS:miscellaneous > ONSET IN UTERO OMIM:616866 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616866 SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA, GENERALIZED, SEVERE OMIM:616866 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616866 SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 HP:0007269 Spinal muscular atrophy IEA IEA OMIM-CS:neurologiccentralnervoussystem > SPINAL MUSCULAR ATROPHY OMIM:616866 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617087 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B HP:0000365 Hearing impairment IEA IEA rare OMIM-CS:headandneckears > HEARING IMPAIRMENT (IN SOME PATIENTS) OMIM:617087 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617087 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B HP:0000648 Optic atrophy IEA IEA OMIM-CS:headandneckeyes > OPTIC ATROPHY OMIM:617087 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617087 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B HP:0000543 Optic disc pallor IEA IEA OMIM-CS:headandneckeyes > PALE OPTIC DISCS OMIM:617087 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617087 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617087 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617087 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B HP:0003828 Variable expressivity IEA IEA OMIM-CS:miscellaneous > VARIABLE SEVERITY OMIM:617087 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617087 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B HP:0002194 Delayed gross motor development IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED GROSS MOTOR DEVELOPMENT OMIM:617087 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617087 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B HP:0002355 Difficulty walking IEA IEA OMIM-CS:neurologiccentralnervoussystem > DIFFICULTY WALKING OMIM:617087 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617087 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B HP:0009027 Foot dorsiflexor weakness IEA IEA OMIM-CS:neurologiccentralnervoussystem > FOOT DROP OMIM:617087 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617087 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B HP:0003477 Peripheral axonal neuropathy IEA IEA OMIM-CS:neurologicperipheralnervoussystem > AXONAL NEUROPATHY OMIM:617087 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617087 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B HP:0002936 Distal sensory impairment IEA IEA OMIM-CS:neurologicperipheralnervoussystem > DISTAL SENSORY IMPAIRMENT OMIM:617087 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617087 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B HP:0001265 Hyporeflexia IEA IEA OMIM-CS:neurologicperipheralnervoussystem > HYPOREFLEXIA OMIM:617087 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617087 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B HP:0002747 Respiratory insufficiency due to muscle weakness IEA IEA rare OMIM-CS:respiratory > RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS (IN SOME PATIENTS) OMIM:617087 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617087 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B HP:0001761 Pes cavus IEA IEA OMIM-CS:skeletalfeet > PES CAVUS OMIM:617087 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617087 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B HP:0002808 Kyphosis IEA IEA OMIM-CS:skeletalspine > KYPHOSIS OMIM:617087 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617087 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B HP:0002650 Scoliosis IEA IEA OMIM-CS:skeletalspine > SCOLIOSIS OMIM:617087 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617205 HETEROTAXY, VISCERAL, 8, AUTOSOMAL HP:0003363 Abdominal situs inversus IEA IEA OMIM-CS:abdomen > SITUS INVERSUS VISCERUM OMIM:617205 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617205 HETEROTAXY, VISCERAL, 8, AUTOSOMAL HP:0011539 Atrial situs ambiguous IEA IEA OMIM-CS:cardiovascularheart > ATRIAL SITUS AMBIGUUS OMIM:617205 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617205 HETEROTAXY, VISCERAL, 8, AUTOSOMAL HP:0001719 Double outlet right ventricle IEA IEA OMIM-CS:cardiovascularheart > DOUBLE OUTLET RIGHT VENTRICLE OMIM:617205 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617205 HETEROTAXY, VISCERAL, 8, AUTOSOMAL HP:0004935 Pulmonary artery atresia IEA IEA OMIM-CS:cardiovascularheart > PULMONARY ATRESIA OMIM:617205 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617205 HETEROTAXY, VISCERAL, 8, AUTOSOMAL HP:0011579 Unbalanced atrioventricular canal defect IEA IEA OMIM-CS:cardiovascularheart > UNBALANCED ATRIOVENTRICULAR SEPTAL DEFECT OMIM:617205 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617205 HETEROTAXY, VISCERAL, 8, AUTOSOMAL HP:0001629 Ventricular septal defect IEA IEA OMIM-CS:cardiovascularheart > VENTRICULAR SEPTAL DEFECT OMIM:617205 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617205 HETEROTAXY, VISCERAL, 8, AUTOSOMAL HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617205 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:580000 DEAFNESS, AMINOGLYCOSIDE-INDUCED HP:0001427 Mitochondrial inheritance IEA IEA OMIM-CS:inheritance > MITOCHONDRIAL OMIM:580000 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:179613 RECOMBINANT CHROMOSOME 8 SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:179613 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616683 LEUKODYSTROPHY, HYPOMYELINATING, 12 HP:0000365 Hearing impairment IEA IEA OMIM-CS:headandneckears > HEARING LOSS OMIM:616683 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616683 LEUKODYSTROPHY, HYPOMYELINATING, 12 HP:0100704 Cortical visual impairment IEA IEA OMIM-CS:headandneckeyes > CORTICAL VISUAL IMPAIRMENT OMIM:616683 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616683 LEUKODYSTROPHY, HYPOMYELINATING, 12 HP:0002459 Dysautonomia IEA IEA OMIM-CS:neurologiccentralnervoussystem > AUTONOMIC DYSFUNCTION OMIM:616683 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616683 LEUKODYSTROPHY, HYPOMYELINATING, 12 HP:0012448 Delayed myelination IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED MYELINATION OMIM:616683 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616683 LEUKODYSTROPHY, HYPOMYELINATING, 12 HP:0001249 Intellectual disability IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY OMIM:616683 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615225 PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING HP:0025092 Epidermal acanthosis IEA IEA OMIM-CS:headandneckeyes > ACANTHOSIS OMIM:615225 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615225 PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING HP:0002860 Squamous cell carcinoma IEA IEA OMIM-CS:neoplasia > SQUAMOUS CELL CARCINOMA OMIM:615225 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615225 PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING HP:0007502 Follicular hyperkeratosis IEA IEA OMIM-CS:skinnailshairskin > FOLLICULAR HYPERKERATOSIS OMIM:615225 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615225 PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING HP:0040180 Hyperkeratosis pilaris IEA IEA rare OMIM-CS:skinnailshairskin > HYPERKERATOSIS PILARIS (IN SOME PATIENTS) OMIM:615225 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613617 RETINITIS PIGMENTOSA 58 HP:0007994 Peripheral visual field loss IEA IEA OMIM-CS:headandneckeyes > LOSS OF PERIPHERAL VISION OMIM:613617 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616531 POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:616531 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616531 POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS HP:0003577 Congenital onset IEA IEA OMIM-CS:miscellaneous > ONSET IN UTERO OMIM:616531 HPO:skoehler 13.07.2017 .......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610017 MULTIPLE SYNOSTOSES SYNDROME 2 HP:0001762 Talipes equinovarus IEA IEA rare OMIM-CS:skeletalfeet > TALIPES EQUINOVARUS (IN SOME PATIENTS) OMIM:610017 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610017 MULTIPLE SYNOSTOSES SYNDROME 2 HP:0001156 Brachydactyly IEA IEA OMIM-CS:skeletalhands > BRACHYDACTYLY OMIM:610017 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610017 MULTIPLE SYNOSTOSES SYNDROME 2 HP:0100264 Proximal symphalangism IEA IEA OMIM-CS:skeletalhands > PROXIMAL SYMPHALANGISM OMIM:610017 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614669 AURICULOCONDYLAR SYNDROME 2 HP:0025267 Snoring IEA IEA OMIM-CS:respiratory > SNORING OMIM:614669 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:271665 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:268300 ROBERTS SYNDROME HP:0030721 Tetraphocomelia IEA IEA OMIM-CS:skeletallimbs > TETRAPHOCOMELIA OMIM:268300 HPO:skoehler 13.07.2017 ........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:122100 CORNEAL DYSTROPHY, MEESMANN HP:0007663 Reduced visual acuity IEA IEA OMIM-CS:headandneckeyes > DECREASED VISUAL ACUITY (ALTHOUGH VISION RARELY SERIOUSLY IMPAIRED) OMIM:122100 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:122100 CORNEAL DYSTROPHY, MEESMANN HP:0000613 Photophobia IEA IEA OMIM-CS:headandneckeyes > PHOTOPHOBIA OMIM:122100 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:122100 CORNEAL DYSTROPHY, MEESMANN HP:0009926 Increased lacrimation IEA IEA OMIM-CS:headandneckeyes > TEARING OMIM:122100 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614565 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E HP:0000545 Myopia IEA IEA OMIM-CS:headandneckeyes > MYOPIA, MILD TO SEVERE OMIM:614565 HPO:skoehler 13.07.2017 . ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:109900 BLEPHAROCHALASIS AND DOUBLE LIP HP:0040295 Duplication of the upper lip IEA IEA OMIM-CS:mouth > DOUBLE UPPER LIP OMIM:109900 HPO:skoehler 13.07.2017 ........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617051 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55 HP:0000486 Strabismus IEA IEA OMIM-CS:headandneckeyes > STRABISMUS OMIM:617051 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617051 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55 HP:0000280 Coarse facial features IEA IEA OMIM-CS:headandneckface > COARSE FACIES OMIM:617051 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617051 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55 HP:0000252 Microcephaly IEA IEA OMIM-CS:headandneckhead > MICROCEPHALY, BORDERLINE (-2.1 TO -3.3 SD) OMIM:617051 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617051 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617051 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617051 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55 HP:0003593 Infantile onset IEA IEA OMIM-CS:miscellaneous > ONSET IN INFANCY OMIM:617051 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617051 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:617051 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617051 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55 HP:0100702 Arachnoid cyst IEA IEA OMIM-CS:neurologiccentralnervoussystem > ARACHNOID CYSTS OMIM:617051 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617051 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55 HP:0002059 Cerebral atrophy IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY OMIM:617051 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617051 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55 HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > GLOBAL DEVELOPMENTAL DELAY OMIM:617051 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617051 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55 HP:0002187 Intellectual disability, profound IEA IEA OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION, PROFOUND OMIM:617051 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617051 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55 HP:0002119 Ventriculomegaly IEA IEA OMIM-CS:neurologiccentralnervoussystem > VENTRICULOMEGALY OMIM:617051 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:235255 MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIAL POLYDACTYLY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:235255 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0000023 Inguinal hernia IEA IEA OMIM-CS:abdomengastrointestinal > INGUINAL HERNIA (IN 1 PATIENT) OMIM:130080 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0000098 Tall stature IEA IEA rare OMIM-CS:growthheight > TALL STATURE (IN SOME PATIENTS) OMIM:130080 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0000225 Gingival bleeding IEA IEA OMIM-CS:headandneckmouth > GINGIVAL BLEEDING OMIM:130080 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0030816 Gingival recession IEA IEA OMIM-CS:headandneckmouth > GINGIVAL RECESSION OMIM:130080 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0410027 Alveolar bone loss around teeth IEA IEA OMIM-CS:headandneckteeth > ALVEOLAR BONE LOSS AROUND TEETH OMIM:130080 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0002960 Autoimmunity IEA IEA OMIM-CS:immunology > AUTOIMMUNE DISORDERS (IN 1 FAMILY) OMIM:130080 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0002719 Recurrent infections IEA IEA rare OMIM-CS:immunology > RECURRENT INFECTIONS (IN SOME PATIENTS) OMIM:130080 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0001166 Arachnodactyly IEA IEA rare OMIM-CS:skeletalhands > ARACHNODACTYLY (IN SOME PATIENTS) OMIM:130080 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0002761 Generalized joint laxity IEA IEA rare OMIM-CS:skeletallimbs > GENERALIZED JOINT LAXITY, MILD (IN SOME PATIENTS) OMIM:130080 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0002650 Scoliosis IEA IEA rare OMIM-CS:skeletalspine > SCOLIOSIS (IN SOME PATIENTS) OMIM:130080 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0001075 Atrophic scars IEA IEA OMIM-CS:skinnailshairskin > ATROPHIC SCARS OMIM:130080 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0000977 Soft skin IEA IEA OMIM-CS:skinnailshairskin > SOFT SKIN OMIM:130080 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 HP:0001609 Hoarse voice IEA IEA OMIM-CS:voice > HOARSE VOICE OMIM:130080 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617090 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE HP:0000104 Renal agenesis IEA IEA OMIM-CS:genitourinarykidneys > RENAL APLASIA (2 FAMILIES) OMIM:617090 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617090 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE HP:0004322 Short stature IEA IEA OMIM-CS:growthheight > SHORT STATURE OMIM:617090 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617090 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE HP:0001508 Failure to thrive IEA IEA OMIM-CS:growthother > FAILURE TO THRIVE OMIM:617090 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617090 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE HP:0000400 Macrotia IEA IEA OMIM-CS:headandneckears > LARGE EARS OMIM:617090 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617090 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE HP:0000316 Hypertelorism IEA IEA OMIM-CS:headandneckeyes > HYPERTELORISM OMIM:617090 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617090 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE HP:0000340 Sloping forehead IEA IEA OMIM-CS:headandneckface > SLOPING FOREHEAD OMIM:617090 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617090 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE HP:0000252 Microcephaly IEA IEA OMIM-CS:headandneckhead > MICROCEPHALY (UP TO -11 SD) OMIM:617090 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617090 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE HP:0012471 Thick vermilion border IEA IEA OMIM-CS:headandneckmouth > THICK LIPS OMIM:617090 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617090 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE HP:0000414 Bulbous nose IEA IEA OMIM-CS:headandnecknose > BULBOUS NOSE OMIM:617090 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617090 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617090 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617090 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE HP:0003577 Congenital onset IEA IEA OMIM-CS:miscellaneous > ONSET IN UTERO OMIM:617090 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617090 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE HP:0003828 Variable expressivity IEA IEA OMIM-CS:miscellaneous > VARIABLE SEVERITY OMIM:617090 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617090 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE HP:0001274 Agenesis of corpus callosum IEA IEA OMIM-CS:neurologiccentralnervoussystem > AGENESIS OF THE CORPUS CALLOSUM OMIM:617090 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617090 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE HP:0002365 Hypoplasia of the brainstem IEA IEA OMIM-CS:neurologiccentralnervoussystem > BRAINSTEM HYPOPLASIA OMIM:617090 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617090 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE HP:0001321 Cerebellar hypoplasia IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR HYPOPLASIA OMIM:617090 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617090 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:617090 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617090 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE HP:0002119 Ventriculomegaly IEA IEA OMIM-CS:neurologiccentralnervoussystem > ENLARGED VENTRICLES OMIM:617090 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617090 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE HP:0001347 Hyperreflexia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPERREFLEXIA OMIM:617090 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617090 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE HP:0001249 Intellectual disability IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY OMIM:617090 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617090 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE HP:0001249 Intellectual disability IEA IEA OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION OMIM:617090 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617090 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE HP:0001250 Seizures IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > SEIZURES (RARE) OMIM:617090 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617090 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE HP:0009879 Cortical gyral simplification IEA IEA OMIM-CS:neurologiccentralnervoussystem > SIMPLIFIED GYRAL PATTERN OMIM:617090 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617090 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE HP:0001257 Spasticity IEA IEA OMIM-CS:neurologiccentralnervoussystem > SPASTICITY OMIM:617090 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611087 POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY HP:0011968 Feeding difficulties IEA IEA OMIM-CS:abdomengastrointestinal > FEEDING DIFFICULTIES OMIM:611087 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611087 POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY HP:0000486 Strabismus IEA IEA OMIM-CS:headandneckeyes > STRABISMUS OMIM:611087 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611087 POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY HP:0000297 Facial hypotonia IEA IEA OMIM-CS:headandneckface > HYPOTONIC FACIES OMIM:611087 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611087 POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY HP:0000194 Open mouth IEA IEA OMIM-CS:headandneckmouth > OPEN MOUTH OMIM:611087 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611087 POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:611087 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611087 POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY HP:0002446 Astrocytosis IEA IEA OMIM-CS:neurologiccentralnervoussystem > ASTROCYTOSIS OMIM:611087 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611087 POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY HP:0002355 Difficulty walking IEA IEA OMIM-CS:neurologiccentralnervoussystem > DIFFICULTY WALKING OMIM:611087 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611087 POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY HP:0002540 Inability to walk IEA IEA OMIM-CS:neurologiccentralnervoussystem > INABILITY TO WALK OMIM:611087 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611087 POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY HP:0001249 Intellectual disability IEA IEA OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION OMIM:611087 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611087 POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY HP:0001250 Seizures IEA IEA MODIFIER:REFRACTORY;OMIM-CS:neurologiccentralnervoussystem > SEIZURES, REFRACTORY OMIM:611087 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611087 POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY HP:0002119 Ventriculomegaly IEA IEA OMIM-CS:neurologiccentralnervoussystem > VENTRICULOMEGALY OMIM:611087 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611087 POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY HP:0001388 Joint laxity IEA IEA rare OMIM-CS:skeletal > JOINT LAXITY (1 PATIENT) OMIM:611087 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602080 PAGET DISEASE OF BONE 2, EARLY-ONSET HP:0003676 Progressive IEA IEA OMIM-CS:miscellaneous > PROGRESSIVE DISORDER OMIM:602080 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602080 PAGET DISEASE OF BONE 2, EARLY-ONSET HP:0003828 Variable expressivity IEA IEA OMIM-CS:miscellaneous > VARIABLE SEVERITY OMIM:602080 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:107650 APNEA, OBSTRUCTIVE SLEEP HP:0025267 Snoring IEA IEA OMIM-CS:resp > SNORING OMIM:107650 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610031 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 HP:0003828 Variable expressivity IEA IEA OMIM-CS:miscellaneous > HIGHLY VARIABLE SEVERITY OMIM:610031 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610031 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 HP:0001339 Lissencephaly IEA IEA OMIM-CS:neurologiccentralnervoussystem > LISSENCEPHALY OMIM:610031 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617302 OPTIC ATROPHY 11 HP:0004322 Short stature IEA IEA OMIM-CS:growthheight > SHORT STATURE OMIM:617302 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617302 OPTIC ATROPHY 11 HP:0000400 Macrotia IEA IEA OMIM-CS:headandneckears > MACROTIA OMIM:617302 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617302 OPTIC ATROPHY 11 HP:0000646 Amblyopia IEA IEA OMIM-CS:headandneckeyes > AMBLYOPIA OMIM:617302 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617302 OPTIC ATROPHY 11 HP:0000540 Hypermetropia IEA IEA OMIM-CS:headandneckeyes > HYPERMETROPIA OMIM:617302 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617302 OPTIC ATROPHY 11 HP:0000545 Myopia IEA IEA OMIM-CS:headandneckeyes > MYOPIA OMIM:617302 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617302 OPTIC ATROPHY 11 HP:0000648 Optic atrophy IEA IEA OMIM-CS:headandneckeyes > OPTIC ATROPHY OMIM:617302 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617302 OPTIC ATROPHY 11 HP:0000486 Strabismus IEA IEA OMIM-CS:headandneckeyes > STRABISMUS OMIM:617302 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617302 OPTIC ATROPHY 11 HP:0000505 Visual impairment IEA IEA OMIM-CS:headandneckeyes > VISUAL IMPAIRMENT OMIM:617302 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617302 OPTIC ATROPHY 11 HP:0001349 Facial diplegia IEA IEA OMIM-CS:headandneckface > FACIAL DIPLEGIA OMIM:617302 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617302 OPTIC ATROPHY 11 HP:0011800 Midface retrusion IEA IEA OMIM-CS:headandneckface > MIDFACE RETRUSION OMIM:617302 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617302 OPTIC ATROPHY 11 HP:0000256 Macrocephaly IEA IEA OMIM-CS:headandneckhead > MACROCEPHALY OMIM:617302 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617302 OPTIC ATROPHY 11 HP:0000252 Microcephaly IEA IEA OMIM-CS:headandneckhead > MICROCEPHALY OMIM:617302 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617302 OPTIC ATROPHY 11 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617302 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617302 OPTIC ATROPHY 11 HP:0003593 Infantile onset IEA IEA OMIM-CS:miscellaneous > ONSET IN INFANCY OMIM:617302 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617302 OPTIC ATROPHY 11 HP:0001290 Generalized hypotonia IEA IEA rare OMIM-CS:musclesofttissue > HYPOTONIA (IN SOME PATIENTS) OMIM:617302 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617302 OPTIC ATROPHY 11 HP:0000752 Hyperactivity IEA IEA OMIM-CS:neurologicbehavioralpsychiatricmanifestations > HYPERACTIVITY OMIM:617302 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617302 OPTIC ATROPHY 11 HP:0001251 Ataxia IEA IEA OMIM-CS:neurologiccentralnervoussystem > ATAXIA OMIM:617302 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617302 OPTIC ATROPHY 11 HP:0012444 Brain atrophy IEA IEA OMIM-CS:neurologiccentralnervoussystem > BRAIN ATROPHY OMIM:617302 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617302 OPTIC ATROPHY 11 HP:0001321 Cerebellar hypoplasia IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR HYPOPLASIA OMIM:617302 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617302 OPTIC ATROPHY 11 HP:0001310 Dysmetria IEA IEA OMIM-CS:neurologiccentralnervoussystem > DYSMETRIA OMIM:617302 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617302 OPTIC ATROPHY 11 HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > GLOBAL DEVELOPMENTAL DELAY OMIM:617302 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617302 OPTIC ATROPHY 11 HP:0002487 Hyperkinesis IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPERKINESIA OMIM:617302 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617302 OPTIC ATROPHY 11 HP:0001249 Intellectual disability IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY OMIM:617302 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617302 OPTIC ATROPHY 11 HP:0002352 Leukoencephalopathy IEA IEA OMIM-CS:neurologiccentralnervoussystem > LEUKOENCEPHALOPATHY OMIM:617302 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615398 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 HP:0000071 Ureteral stenosis IEA IEA OMIM-CS:genitourinaryureters > URETERAL STENOSIS OMIM:615398 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615398 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 HP:0002714 Downturned corners of mouth IEA IEA OMIM-CS:headandneckmouth > DOWNTURNED CORNERS OF THE MOUTH OMIM:615398 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615398 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 HP:0000218 High palate IEA IEA OMIM-CS:headandneckmouth > HIGH-ARCHED PALATE OMIM:615398 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615398 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:615398 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615398 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 HP:0000939 Osteoporosis IEA IEA OMIM-CS:skeletal > OSTEOPOROSIS OMIM:615398 HPO:skoehler 13.07.2017 ..................filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300989 MEESTER-LOEYS SYNDROME HP:0001653 Mitral regurgitation IEA IEA OMIM-CS:cardiovascularheart > MITRAL VALVE INSUFFICIENCY, MILD OMIM:300989 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300989 MEESTER-LOEYS SYNDROME HP:0002647 Aortic dissection IEA IEA rare OMIM-CS:cardiovascularvascular > AORTIC DISSECTION (IN SOME PATIENTS) OMIM:300989 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300989 MEESTER-LOEYS SYNDROME HP:0004944 Dilatation of the cerebral artery IEA IEA rare OMIM-CS:cardiovascularvascular > CEREBRAL ANEURYSM (RARE) OMIM:300989 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300989 MEESTER-LOEYS SYNDROME HP:0004937 Pulmonary artery aneurysm IEA IEA rare OMIM-CS:cardiovascularvascular > PULMONARY ARTERY ANEURYSM (RARE) OMIM:300989 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300989 MEESTER-LOEYS SYNDROME HP:0000494 Downslanted palpebral fissures IEA IEA OMIM-CS:headandneckeyes > DOWNSLANTING PALPEBRAL FISSURES OMIM:300989 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300989 MEESTER-LOEYS SYNDROME HP:0000316 Hypertelorism IEA IEA OMIM-CS:headandneckeyes > HYPERTELORISM OMIM:300989 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300989 MEESTER-LOEYS SYNDROME HP:0000520 Proptosis IEA IEA OMIM-CS:headandneckeyes > PROPTOSIS OMIM:300989 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300989 MEESTER-LOEYS SYNDROME HP:0002007 Frontal bossing IEA IEA OMIM-CS:headandneckface > FRONTAL BOSSING OMIM:300989 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300989 MEESTER-LOEYS SYNDROME HP:0000272 Malar flattening IEA IEA OMIM-CS:headandneckface > MALAR HYPOPLASIA OMIM:300989 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300989 MEESTER-LOEYS SYNDROME HP:0004482 Relative macrocephaly IEA IEA rare OMIM-CS:headandneckhead > RELATIVE MACROCEPHALY (IN SOME PATIENTS) OMIM:300989 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300989 MEESTER-LOEYS SYNDROME HP:0000193 Bifid uvula IEA IEA OMIM-CS:headandneckmouth > BIFID UVULA (IN 1 PATIENT) OMIM:300989 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300989 MEESTER-LOEYS SYNDROME HP:0001417 X-linked inheritance IEA IEA OMIM-CS:inheritance > X-LINKED OMIM:300989 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300989 MEESTER-LOEYS SYNDROME HP:0002119 Ventriculomegaly IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > DILATED CEREBRAL VENTRICLES (IN SOME PATIENTS) OMIM:300989 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300989 MEESTER-LOEYS SYNDROME HP:0012385 Camptodactyly IEA IEA rare OMIM-CS:skeletalfeet > CAMPTODACTYLY (IN SOME PATIENTS) OMIM:300989 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300989 MEESTER-LOEYS SYNDROME HP:0001763 Pes planus IEA IEA rare OMIM-CS:skeletalfeet > FLAT FEET (IN SOME PATIENTS) OMIM:300989 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300989 MEESTER-LOEYS SYNDROME HP:0012385 Camptodactyly IEA IEA rare OMIM-CS:skeletalhands > CAMPTODACTYLY (IN SOME PATIENTS) OMIM:300989 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300989 MEESTER-LOEYS SYNDROME HP:0001382 Joint hypermobility IEA IEA OMIM-CS:skeletalhands > JOINT HYPERMOBILITY OMIM:300989 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300989 MEESTER-LOEYS SYNDROME HP:0001371 Flexion contracture IEA IEA rare OMIM-CS:skeletallimbs > JOINT CONTRACTURE (IN SOME PATIENTS) OMIM:300989 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300989 MEESTER-LOEYS SYNDROME HP:0001373 Joint dislocation IEA IEA rare OMIM-CS:skeletallimbs > JOINT DISLOCATION (IN SOME PATIENTS) OMIM:300989 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300989 MEESTER-LOEYS SYNDROME HP:0001382 Joint hypermobility IEA IEA OMIM-CS:skeletallimbs > JOINT HYPERMOBILITY OMIM:300989 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300989 MEESTER-LOEYS SYNDROME HP:0004482 Relative macrocephaly IEA IEA rare OMIM-CS:skeletalskull > RELATIVE MACROCEPHALY (IN SOME PATIENTS) OMIM:300989 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300989 MEESTER-LOEYS SYNDROME HP:0010646 Cervical spine instability IEA IEA rare OMIM-CS:skeletalspine > CERVICAL SPINE INSTABILITY (RARE) OMIM:300989 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0011968 Feeding difficulties IEA IEA OMIM-CS:abdomengastrointestinal > FEEDING DIFFICULTIES OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0000028 Cryptorchidism IEA IEA OMIM-CS:genitourinaryexternalgenitaliamale > CRYPTORCHIDISM OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0004322 Short stature IEA IEA OMIM-CS:growthheight > SHORT STATURE OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0001508 Failure to thrive IEA IEA OMIM-CS:growthother > FAILURE TO THRIVE OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0001511 Intrauterine growth retardation IEA IEA OMIM-CS:growthother > INTRAUTERINE GROWTH RETARDATION (IUGR) OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0004325 Decreased body weight IEA IEA OMIM-CS:growthweight > LOW WEIGHT OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0000377 Abnormality of the pinna IEA IEA OMIM-CS:headandneckears > DYSPLASTIC EARS OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0000365 Hearing impairment IEA IEA OMIM-CS:headandneckears > HEARING LOSS OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0000400 Macrotia IEA IEA OMIM-CS:headandneckears > LARGE EARS OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0000369 Low-set ears IEA IEA OMIM-CS:headandneckears > LOW-SET EARS OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0000411 Protruding ear IEA IEA OMIM-CS:headandneckears > PROTRUDING EARS OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0002553 Highly arched eyebrow IEA IEA OMIM-CS:headandneckeyes > ARCHED EYEBROWS OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0000494 Downslanted palpebral fissures IEA IEA OMIM-CS:headandneckeyes > DOWNSLANTING PALPEBRAL FISSURES OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0000527 Long eyelashes IEA IEA OMIM-CS:headandneckeyes > LONG EYELASHES OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0000637 Long palpebral fissure IEA IEA OMIM-CS:headandneckeyes > LONG PALPEBRAL FISSURES OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0000276 Long face IEA IEA OMIM-CS:headandneckface > LONG FACE OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0000343 Long philtrum IEA IEA OMIM-CS:headandneckface > LONG PHILTRUM OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0000278 Retrognathia IEA IEA OMIM-CS:headandneckface > RETROGNATHIA OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0000248 Brachycephaly IEA IEA OMIM-CS:headandneckhead > BRACHYCEPHALY OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0005469 Flat occiput IEA IEA OMIM-CS:headandneckhead > FLAT OCCIPUT OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0000252 Microcephaly IEA IEA OMIM-CS:headandneckhead > MICROCEPHALY (UP TO -6.5 SD) OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0000218 High palate IEA IEA OMIM-CS:headandneckmouth > HIGH-ARCHED PALATE OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0000219 Thin upper lip vermilion IEA IEA OMIM-CS:headandneckmouth > THIN UPPER LIP OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0000470 Short neck IEA IEA OMIM-CS:headandneckneck > SHORT NECK OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0000431 Wide nasal bridge IEA IEA OMIM-CS:headandnecknose > BROAD NASAL ROOT OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0000426 Prominent nasal bridge IEA IEA OMIM-CS:headandnecknose > PROMINENT NASAL BRIDGE OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0003812 Phenotypic variability IEA IEA OMIM-CS:miscellaneous > VARIABLE PHENOTYPE OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0001276 Hypertonia IEA IEA OMIM-CS:musclesofttissue > HYPERTONIA OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0000729 Autistic behavior IEA IEA OMIM-CS:neurologicbehavioralpsychiatricmanifestations > AUTISM SPECTRUM DISORDER OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0002119 Ventriculomegaly IEA IEA OMIM-CS:neurologiccentralnervoussystem > ENLARGED VENTRICLES OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0002079 Hypoplasia of the corpus callosum IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOPLASTIC CORPUS CALLOSUM OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0002540 Inability to walk IEA IEA OMIM-CS:neurologiccentralnervoussystem > INABILITY TO WALK OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0010864 Intellectual disability, severe IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, SEVERE OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0002510 Spastic tetraplegia IEA IEA OMIM-CS:neurologiccentralnervoussystem > SPASTIC QUADRIPLEGIA OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0001371 Flexion contracture IEA IEA OMIM-CS:skeletal > JOINT CONTRACTURES OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0001762 Talipes equinovarus IEA IEA OMIM-CS:skeletalfeet > CLUB FEET OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0001845 Overlapping toe IEA IEA OMIM-CS:skeletalfeet > OVERRIDING TOES OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0011304 Broad thumb IEA IEA OMIM-CS:skeletalhands > BROAD THUMBS OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0001182 Tapered finger IEA IEA OMIM-CS:skeletalhands > TAPERED FINGERS OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0002650 Scoliosis IEA IEA OMIM-CS:skeletalspine > SCOLIOSIS OMIM:617452 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES HP:0000960 Sacral dimple IEA IEA OMIM-CS:skinnailshairskin > SACRAL DIMPLE OMIM:617452 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617027 HYPERALDOSTERONISM, FAMILIAL, TYPE IV HP:0000822 Hypertension IEA IEA OMIM-CS:cardiovascularvascular > HYPERTENSION OMIM:617027 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617027 HYPERALDOSTERONISM, FAMILIAL, TYPE IV HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:617027 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608970 MACULAR DYSTROPHY, PATTERNED, 2 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:608970 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:201450 ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:201450 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:208085 ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:208085 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:146390 CHROMOSOME 18P DELETION SYNDROME HP:0000463 Anteverted nares IEA IEA OMIM-CS:headandnecknose > UPTURNED NOSTRILS OMIM:146390 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:242700 IMMUNE DEFECT DUE TO ABSENCE OF THYMUS HP:0005359 Aplasia of the thymus IEA IEA OMIM-CS:immunology > ABSENT THYMUS OMIM:242700 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613803 MEIER-GORLIN SYNDROME 3 HP:0002020 Gastroesophageal reflux IEA IEA OMIM-CS:abdomengastrointestinal > GASTROESOPHAGEAL REFLUX OMIM:613803 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613803 MEIER-GORLIN SYNDROME 3 HP:0000047 Hypospadias IEA IEA OMIM-CS:genitourinaryexternalgenitaliamale > HYPOSPADIAS OMIM:613803 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613803 MEIER-GORLIN SYNDROME 3 HP:0000054 Micropenis IEA IEA OMIM-CS:genitourinaryexternalgenitaliamale > MICROPENIS OMIM:613803 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613803 MEIER-GORLIN SYNDROME 3 HP:0000369 Low-set ears IEA IEA OMIM-CS:headandneckears > LOW-SET EARS OMIM:613803 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613803 MEIER-GORLIN SYNDROME 3 HP:0000358 Posteriorly rotated ears IEA IEA OMIM-CS:headandneckears > POSTERIORLY ROTATED EARS OMIM:613803 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613803 MEIER-GORLIN SYNDROME 3 HP:0000494 Downslanted palpebral fissures IEA IEA OMIM-CS:headandneckeyes > DOWNSLANTING PALPEBRAL FISSURES OMIM:613803 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613803 MEIER-GORLIN SYNDROME 3 HP:0000426 Prominent nasal bridge IEA IEA OMIM-CS:headandnecknose > HIGH NASAL BRIDGE OMIM:613803 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613803 MEIER-GORLIN SYNDROME 3 HP:0001270 Motor delay IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > DELAYED MOTOR DEVELOPMENT (IN SOME PATIENTS) OMIM:613803 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613803 MEIER-GORLIN SYNDROME 3 HP:0000750 Delayed speech and language development IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > DELAYED SPEECH DEVELOPMENT (IN SOME PATIENTS) OMIM:613803 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613803 MEIER-GORLIN SYNDROME 3 HP:0002780 Bronchomalacia IEA IEA OMIM-CS:respiratoryairways > BRONCHOMALACIA OMIM:613803 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613803 MEIER-GORLIN SYNDROME 3 HP:0002779 Tracheomalacia IEA IEA OMIM-CS:respiratoryairways > TRACHEOMALACIA OMIM:613803 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613803 MEIER-GORLIN SYNDROME 3 HP:0001601 Laryngomalacia IEA IEA OMIM-CS:respiratorylarynx > LARYNGOMALACIA OMIM:613803 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613803 MEIER-GORLIN SYNDROME 3 HP:0001762 Talipes equinovarus IEA IEA OMIM-CS:skeletalfeet > CLUB FEET OMIM:613803 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617014 NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE HP:0001875 Neutropenia IEA IEA OMIM-CS:immunology > NEUTROPENIA OMIM:617014 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617014 NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE HP:0002719 Recurrent infections IEA IEA OMIM-CS:immunology > RECURRENT INFECTIONS OMIM:617014 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617014 NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617014 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617116 EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:617116 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617116 EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 HP:0003829 Incomplete penetrance IEA IEA OMIM-CS:miscellaneous > INCOMPLETE PENETRANCE OMIM:617116 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617132 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 HP:0002020 Gastroesophageal reflux IEA IEA OMIM-CS:abdomengastrointestinal > GASTROESOPHAGEAL REFLUX OMIM:617132 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617132 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 HP:0011968 Feeding difficulties IEA IEA OMIM-CS:abdomengastrointestinal > POOR FEEDING OMIM:617132 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617132 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 HP:0004322 Short stature IEA IEA OMIM-CS:growthheight > SHORT STATURE OMIM:617132 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617132 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 HP:0001508 Failure to thrive IEA IEA OMIM-CS:growthother > FAILURE TO THRIVE OMIM:617132 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617132 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 HP:0000817 Poor eye contact IEA IEA OMIM-CS:headandneckeyes > POOR EYE CONTACT OMIM:617132 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617132 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 HP:0000298 Mask-like facies IEA IEA OMIM-CS:headandneckface > EXPRESSIONLESS FACE OMIM:617132 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617132 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 HP:0005484 Postnatal microcephaly IEA IEA OMIM-CS:headandneckhead > MICROCEPHALY, POSTNATAL OMIM:617132 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617132 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617132 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617132 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:617132 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617132 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 HP:0000737 Irritability IEA IEA OMIM-CS:neurologicbehavioralpsychiatricmanifestations > IRRITABILITY OMIM:617132 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617132 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 HP:0002305 Athetosis IEA IEA OMIM-CS:neurologiccentralnervoussystem > ATHETOID MOVEMENTS OMIM:617132 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617132 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 HP:0001272 Cerebellar atrophy IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR ATROPHY OMIM:617132 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617132 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 HP:0002059 Cerebral atrophy IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY OMIM:617132 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617132 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 HP:0012448 Delayed myelination IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED MYELINATION OMIM:617132 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617132 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 HP:0001332 Dystonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > DYSTONIA OMIM:617132 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617132 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 HP:0001298 Encephalopathy IEA IEA OMIM-CS:neurologiccentralnervoussystem > ENCEPHALOPATHY OMIM:617132 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617132 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 HP:0010864 Intellectual disability, severe IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, SEVERE OMIM:617132 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617132 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 HP:0001344 Absent speech IEA IEA OMIM-CS:neurologiccentralnervoussystem > LACK OF SPEECH OMIM:617132 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617132 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 HP:0001250 Seizures IEA IEA OMIM-CS:neurologiccentralnervoussystem > SEIZURES (IN MOST PATIENTS) OMIM:617132 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617132 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 HP:0001257 Spasticity IEA IEA OMIM-CS:neurologiccentralnervoussystem > SPASTICITY OMIM:617132 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617132 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 HP:0002079 Hypoplasia of the corpus callosum IEA IEA OMIM-CS:neurologiccentralnervoussystem > THIN CORPUS CALLOSUM OMIM:617132 HPO:skoehler 13.07.2017 .......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614204 PSORIASIS 14, PUSTULAR HP:0025252 Geographic tongue IEA IEA rare OMIM-CS:headandneckmouth > GEOGRAPHIC TONGUE (IN SOME PATIENTS) OMIM:614204 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614204 PSORIASIS 14, PUSTULAR HP:0040313 Oligoarthritis IEA IEA rare OMIM-CS:skeletal > OLIGOARTHRITIS (IN SOME PATIENTS) OMIM:614204 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614204 PSORIASIS 14, PUSTULAR HP:0025092 Epidermal acanthosis IEA IEA OMIM-CS:skinnailshairskinhistology > ACANTHOSIS OMIM:614204 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:609638 EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC HP:0001640 Cardiomegaly IEA IEA rare OMIM-CS:cardiovascularheart > ENLARGED HEART (IN SOME PATIENTS) OMIM:609638 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:609638 EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC HP:0001057 Aplasia cutis congenita IEA IEA OMIM-CS:skinnailshairskin > CUTIS APLASIA OMIM:609638 HPO:skoehler 13.07.2017 .........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616705 DEAFNESS, AUTOSOMAL RECESSIVE 97 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:616705 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616948 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22 HP:0000639 Nystagmus IEA IEA OMIM-CS:headandneckeyes > NYSTAGMUS OMIM:616948 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616948 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22 HP:0003677 Slow progression IEA IEA OMIM-CS:miscellaneous > SLOW PROGRESSION OMIM:616948 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616948 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22 HP:0001249 Intellectual disability IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY OMIM:616948 HPO:skoehler 13.07.2017 ... filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613287 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N HP:0000407 Sensorineural hearing impairment IEA IEA OMIM-CS:headandneckears > SENSORINEURAL DEAFNESS, VARIABLE (IN 1 FAMILY) OMIM:613287 HPO:skoehler 13.07.2017 .........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0002020 Gastroesophageal reflux IEA IEA rare OMIM-CS:abdomengastrointestinal > GASTROESOPHAGEAL REFLUX (IN SOME PATIENTS) OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0001631 Atrial septal defect IEA IEA OMIM-CS:cardiovascularheart > ATRIAL SEPTAL DEFECT OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0001643 Patent ductus arteriosus IEA IEA OMIM-CS:cardiovascularheart > PATENT DUCTUS ARTERIOSUS OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0001655 Patent foramen ovale IEA IEA OMIM-CS:cardiovascularheart > PATENT FORAMEN OVALE OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0001667 Right ventricular hypertrophy IEA IEA OMIM-CS:cardiovascularheart > RIGHT VENTRICULAR HYPERTROPHY OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0000823 Delayed puberty IEA IEA rare OMIM-CS:endocrinefeatures > DELAYED PUBERTY (IN SOME PATIENTS) OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0000028 Cryptorchidism IEA IEA rare OMIM-CS:genitourinaryinternalgenitaliamale > CRYPTORCHIDISM (IN SOME PATIENTS) OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0001533 Slender build IEA IEA OMIM-CS:growthother > SLENDER BUILD OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0000545 Myopia IEA IEA OMIM-CS:headandneckeyes > MYOPIA OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0000486 Strabismus IEA IEA OMIM-CS:headandneckeyes > STRABISMUS OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0000582 Upslanted palpebral fissure IEA IEA OMIM-CS:headandneckeyes > UPSLANTING PALPEBRAL FISSURES OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0002007 Frontal bossing IEA IEA OMIM-CS:headandneckface > FRONTAL BOSSING OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0000276 Long face IEA IEA OMIM-CS:headandneckface > LONG FACE OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0000272 Malar flattening IEA IEA OMIM-CS:headandneckface > MALAR HYPOPLASIA OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0002705 High, narrow palate IEA IEA OMIM-CS:headandneckmouth > HIGH NARROW PALATE OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0000194 Open mouth IEA IEA OMIM-CS:headandneckmouth > OPEN MOUTH OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0000160 Narrow mouth IEA IEA OMIM-CS:headandneckmouth > SMALL MOUTH OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0000154 Wide mouth IEA IEA rare OMIM-CS:headandneckmouth > WIDE MOUTH (IN SOME PATIENTS) OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0004411 Deviated nasal septum IEA IEA rare OMIM-CS:headandnecknose > DEVIATED NASAL SEPTUM (IN SOME PATIENTS) OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0000448 Prominent nose IEA IEA OMIM-CS:headandnecknose > PROMINENT NOSE OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0000678 Dental crowding IEA IEA OMIM-CS:headandneckteeth > CROWDED TEETH OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0000687 Widely spaced teeth IEA IEA rare OMIM-CS:headandneckteeth > WIDELY SPACED TEETH (IN SOME PATIENTS) OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0001319 Neonatal hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA, NEONATAL OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0001321 Cerebellar hypoplasia IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR HYPOPLASIA (IN SOME PATIENTS) OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0001250 Seizures IEA IEA OMIM-CS:neurologiccentralnervoussystem > SEIZURES (IN 1 PATIENT) OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0001822 Hallux valgus IEA IEA OMIM-CS:skeletalfeet > HALLUX VALGUS OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0001763 Pes planus IEA IEA OMIM-CS:skeletalfeet > PES PLANUS OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0002684 Thickened calvaria IEA IEA OMIM-CS:skeletalskull > THICKENED CALVARIUM OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0002808 Kyphosis IEA IEA OMIM-CS:skeletalspine > KYPHOSIS OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0002650 Scoliosis IEA IEA OMIM-CS:skeletalspine > SCOLIOSIS OMIM:300967 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 HP:0001611 Nasal speech IEA IEA OMIM-CS:voice > NASAL SPEECH OMIM:300967 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601376 CHONDRODYSPLASIA, LETHAL, WITH LONG BONE ANGULATION AND MIXED BONE DENSITY HP:0001474 Sclerotic scapulae IEA IEA OMIM-CS:chestribssternumclaviclesandscapulae > SCLEROTIC SCAPULAE OMIM:601376 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601376 CHONDRODYSPLASIA, LETHAL, WITH LONG BONE ANGULATION AND MIXED BONE DENSITY HP:0008873 Disproportionate short-limb short stature IEA IEA OMIM-CS:growthheight > SHORT LIMB DWARFISM OMIM:601376 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614067 SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE HP:0000316 Hypertelorism IEA IEA OMIM-CS:headandneckeyes > HYPERTELORISM OMIM:614067 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614067 SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE HP:0000297 Facial hypotonia IEA IEA OMIM-CS:headandneckface > FACIAL HYPOTONIA OMIM:614067 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614067 SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE HP:0000322 Short philtrum IEA IEA OMIM-CS:headandneckface > SHORT PHILTRUM OMIM:614067 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614067 SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE HP:0012471 Thick vermilion border IEA IEA OMIM-CS:headandneckmouth > FULL LIPS OMIM:614067 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614067 SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE HP:0000218 High palate IEA IEA OMIM-CS:headandneckmouth > HIGH-ARCHED PALATE OMIM:614067 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614067 SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE HP:0000431 Wide nasal bridge IEA IEA OMIM-CS:headandnecknose > BROAD NASAL BRIDGE OMIM:614067 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614067 SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE HP:0008936 Muscular hypotonia of the trunk IEA IEA OMIM-CS:musclesofttissue > AXIAL HYPOTONIA OMIM:614067 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614067 SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE HP:0002373 Febrile seizures IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > FEBRILE SEIZURES (IN SOME PATIENTS) OMIM:614067 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614067 SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE HP:0007359 Focal seizures IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > FOCAL SEIZURES (IN SOME PATIENTS) OMIM:614067 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615440 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:615440 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:232240 GLYCOGEN STORAGE DISEASE IC HP:0001114 Xanthelasma IEA IEA OMIM-CS:skin > XANTHOMA OMIM:232240 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617018 SPINOCEREBELLAR ATAXIA 43 HP:0000571 Hypometric saccades IEA IEA rare OMIM-CS:headandneckeyes > HYPOMETRIC SACCADES (IN SOME PATIENTS) OMIM:617018 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617018 SPINOCEREBELLAR ATAXIA 43 HP:0000639 Nystagmus IEA IEA rare OMIM-CS:headandneckeyes > NYSTAGMUS (IN SOME PATIENTS) OMIM:617018 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617018 SPINOCEREBELLAR ATAXIA 43 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:617018 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617018 SPINOCEREBELLAR ATAXIA 43 HP:0003581 Adult onset IEA IEA OMIM-CS:miscellaneous > ADULT ONSET (RANGE 42 TO 68 YEARS) OMIM:617018 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617018 SPINOCEREBELLAR ATAXIA 43 HP:0003677 Slow progression IEA IEA OMIM-CS:miscellaneous > SLOWLY PROGRESSIVE OMIM:617018 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617018 SPINOCEREBELLAR ATAXIA 43 HP:0003693 Distal amyotrophy IEA IEA OMIM-CS:musclesofttissue > DISTAL AMYOTROPHY OMIM:617018 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617018 SPINOCEREBELLAR ATAXIA 43 HP:0001251 Ataxia IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR ATAXIA OMIM:617018 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617018 SPINOCEREBELLAR ATAXIA 43 HP:0001272 Cerebellar atrophy IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR ATROPHY OMIM:617018 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617018 SPINOCEREBELLAR ATAXIA 43 HP:0001260 Dysarthria IEA IEA OMIM-CS:neurologiccentralnervoussystem > DYSARTHRIA OMIM:617018 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617018 SPINOCEREBELLAR ATAXIA 43 HP:0002066 Gait ataxia IEA IEA OMIM-CS:neurologiccentralnervoussystem > GAIT ATAXIA OMIM:617018 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617018 SPINOCEREBELLAR ATAXIA 43 HP:0002070 Limb ataxia IEA IEA OMIM-CS:neurologiccentralnervoussystem > LIMB ATAXIA OMIM:617018 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617018 SPINOCEREBELLAR ATAXIA 43 HP:0002063 Rigidity IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > RIGIDITY (IN SOME PATIENTS) OMIM:617018 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617018 SPINOCEREBELLAR ATAXIA 43 HP:0001337 Tremor IEA IEA OMIM-CS:neurologiccentralnervoussystem > TREMOR OMIM:617018 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617018 SPINOCEREBELLAR ATAXIA 43 HP:0002936 Distal sensory impairment IEA IEA rare OMIM-CS:neurologicperipheralnervoussystem > DISTAL SENSORY IMPAIRMENT (IN SOME PATIENTS) OMIM:617018 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617018 SPINOCEREBELLAR ATAXIA 43 HP:0001265 Hyporeflexia IEA IEA OMIM-CS:neurologicperipheralnervoussystem > HYPOREFLEXIA OMIM:617018 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617018 SPINOCEREBELLAR ATAXIA 43 HP:0001761 Pes cavus IEA IEA OMIM-CS:skeletalfeet > PES CAVUS OMIM:617018 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:255110 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:255110 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:248000 MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE HP:0030799 Scaphocephaly IEA IEA OMIM-CS:headandneckhead > SCAPHOCEPHALY OMIM:248000 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:116300 CATARACT 30, MULTIPLE TYPES HP:0001115 Posterior polar cataract IEA IEA OMIM-CS:headandneckeyes > POSTERIOR POLAR CATARACT OMIM:116300 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:116300 CATARACT 30, MULTIPLE TYPES HP:0010693 Pulverulent cataract IEA IEA OMIM-CS:headandneckeyes > PULVERULENT CATARACT OMIM:116300 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:116300 CATARACT 30, MULTIPLE TYPES HP:0003577 Congenital onset IEA IEA OMIM-CS:miscellaneous > CONGENITAL ONSET OMIM:116300 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:211530 BROWN-VIALETTO-VAN LAERE SYNDROME 1 HP:0002098 Respiratory distress IEA IEA OMIM-CS:respiratory > SHORTNESS OF BREATH OMIM:211530 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612379 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:612379 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300355 MENTAL RETARDATION, X-LINKED 73 HP:0000664 Synophrys IEA IEA OMIM-CS:headandneckface > SYNOPHRYS, MILD OMIM:300355 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300355 MENTAL RETARDATION, X-LINKED 73 HP:0001419 X-linked recessive inheritance IEA IEA OMIM-CS:inheritance > X-LINKED RECESSIVE OMIM:300355 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616914 MARFAN LIPODYSTROPHY SYNDROME HP:0000822 Hypertension IEA IEA rare OMIM-CS:cardiovascularvascular > HYPERTENSION (RARE) OMIM:616914 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616914 MARFAN LIPODYSTROPHY SYNDROME HP:0000256 Macrocephaly IEA IEA OMIM-CS:headandneckhead > LARGE HEAD OMIM:616914 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616914 MARFAN LIPODYSTROPHY SYNDROME HP:0012759 Neurodevelopmental abnormality IEA IEA NOT NOT OMIM-CS:neurologiccentralnervoussystem > NORMAL PSYCHOMOTOR DEVELOPMENT OMIM:616914 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616914 MARFAN LIPODYSTROPHY SYNDROME HP:0008081 Pes valgus IEA IEA OMIM-CS:skeletalfeet > PES VALGUS OMIM:616914 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614751 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB HP:0003431 Decreased motor nerve conduction velocity IEA IEA OMIM-CS:neurologicperipheralnervoussystem > DECREASED MOTOR NERVE CONDUCTION VELOCITIES OMIM:614751 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614817 INTERSTITIAL NEPHRITIS, KARYOMEGALIC HP:0003138 Increased blood urea nitrogen IEA IEA OMIM-CS:laboratoryabnormalities > INCREASED BUN OMIM:614817 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614231 MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME HP:0003577 Congenital onset IEA IEA OMIM-CS:miscellaneous > ONSET IN UTERO OMIM:614231 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614231 MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME HP:0001319 Neonatal hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA, NEONATAL OMIM:614231 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614231 MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME HP:0002187 Intellectual disability, profound IEA IEA OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION, PROFOUND OMIM:614231 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:182210 SHPRINTZEN OMPHALOCELE SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:182210 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:219150 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:219150 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:194050 WILLIAMS-BEUREN SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:194050 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:101900 ACROKERATOSIS VERRUCIFORMIS HP:0025092 Epidermal acanthosis IEA IEA OMIM-CS:skinnailshairskinhistology > ACANTHOSIS OMIM:101900 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:212112 CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM HP:0000508 Ptosis IEA IEA rare OMIM-CS:headandneckeyes > PTOSIS, BILATERAL (IN SOME PATIENTS) OMIM:212112 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614820 ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 HP:0000639 Nystagmus IEA IEA OMIM-CS:headandneckeyes > NYSTAGMUS OMIM:614820 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614820 ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 HP:0001260 Dysarthria IEA IEA OMIM-CS:neurologiccentralnervoussystem > DYSARTHRIA OMIM:614820 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614820 ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 HP:0001249 Intellectual disability IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY OMIM:614820 HPO:skoehler 13.07.2017 ..........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614613 ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE HP:0000303 Mandibular prognathia IEA IEA OMIM-CS:headandneckface > PROMINENT MANDIBLE OMIM:614613 HPO:skoehler 13.07.2017 ........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615160 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 HP:0100543 Cognitive impairment IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > COGNITIVE IMPAIRMENT, MILD (1 PATIENT) OMIM:615160 HPO:skoehler 13.07.2017 ... ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601696 NOVELTY SEEKING PERSONALITY TRAIT HP:0100710 Impulsivity IEA IEA OMIM-CS:neuro > IMPULSIVE OMIM:601696 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617186 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY HP:0000639 Nystagmus IEA IEA OMIM-CS:headandneckeyes > NYSTAGMUS OMIM:617186 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617186 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY HP:0000486 Strabismus IEA IEA OMIM-CS:headandneckeyes > STRABISMUS OMIM:617186 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617186 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617186 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617186 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY HP:0002490 Increased CSF lactate IEA IEA OMIM-CS:laboratoryabnormalities > INCREASED CSF LACTATE OMIM:617186 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617186 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY HP:0002151 Increased serum lactate IEA IEA OMIM-CS:laboratoryabnormalities > INCREASED SERUM LACTATE OMIM:617186 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617186 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY HP:0003128 Lactic acidosis IEA IEA OMIM-CS:metabolicfeatures > LACTIC ACIDOSIS OMIM:617186 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617186 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY HP:0001522 Death in infancy IEA IEA OMIM-CS:miscellaneous > DEATH IN EARLY CHILDHOOD OMIM:617186 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617186 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY HP:0003678 Rapidly progressive IEA IEA OMIM-CS:miscellaneous > RAPIDLY PROGRESSIVE OMIM:617186 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617186 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:617186 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617186 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY HP:0001251 Ataxia IEA IEA OMIM-CS:neurologiccentralnervoussystem > ATAXIA OMIM:617186 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617186 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY HP:0012444 Brain atrophy IEA IEA OMIM-CS:neurologiccentralnervoussystem > BRAIN ATROPHY OMIM:617186 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617186 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY HP:0002181 Cerebral edema IEA IEA OMIM-CS:neurologiccentralnervoussystem > BRAIN EDEMA OMIM:617186 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617186 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY HP:0030915 Cerebellar edema IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR EDEMA OMIM:617186 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617186 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY HP:0001259 Coma IEA IEA OMIM-CS:neurologiccentralnervoussystem > COMA OMIM:617186 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617186 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY HP:0002352 Leukoencephalopathy IEA IEA OMIM-CS:neurologiccentralnervoussystem > LEUKOENCEPHALOPATHY OMIM:617186 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617186 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY HP:0002376 Developmental regression IEA IEA OMIM-CS:neurologiccentralnervoussystem > PSYCHOMOTOR REGRESSION OMIM:617186 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617186 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY HP:0001250 Seizures IEA IEA OMIM-CS:neurologiccentralnervoussystem > SEIZURES OMIM:617186 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617186 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY HP:0002273 Tetraparesis IEA IEA OMIM-CS:neurologiccentralnervoussystem > TETRAPARESIS OMIM:617186 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617186 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY HP:0001337 Tremor IEA IEA OMIM-CS:neurologiccentralnervoussystem > TREMOR OMIM:617186 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617186 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY HP:0200041 Skin erosion IEA IEA OMIM-CS:skinnailshairskin > SKIN EROSION OMIM:617186 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600118 WARBURG MICRO SYNDROME 1 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:600118 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615474 PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES HP:0002305 Athetosis IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > ATHETOSIS, MILD (IN ONE PATIENT) OMIM:615474 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614345 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 24 HP:0001510 Growth delay IEA IEA OMIM-CS:growthother > GROWTH RETARDATION OMIM:614345 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614345 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 24 HP:0000252 Microcephaly IEA IEA OMIM-CS:headandneckhead > MICROCEPHALY, MILD OMIM:614345 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614345 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 24 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:614345 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614345 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 24 HP:0000750 Delayed speech and language development IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED SPEECH OMIM:614345 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614345 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 24 HP:0002342 Intellectual disability, moderate IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, MODERATE OMIM:614345 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614345 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 24 HP:0001270 Motor delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > MOTOR DELAY OMIM:614345 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:218450 CRANIOSTENOSIS, SAGITTAL, WITH CONGENITAL HEART DISEASE, MENTAL DEFICIENCY, AND MANDIBULAR ANKYLOSIS HP:0000211 Trismus IEA IEA OMIM-CS:heent > LIMITED MOUTH OPENING OMIM:218450 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617251 UNCOMBABLE HAIR SYNDROME 2 HP:0001118 Juvenile cataract IEA IEA OMIM-CS:headandneckeyes > JUVENILE CATARACT, BILATERAL OMIM:617251 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617251 UNCOMBABLE HAIR SYNDROME 2 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617251 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617251 UNCOMBABLE HAIR SYNDROME 2 HP:0003593 Infantile onset IEA IEA OMIM-CS:miscellaneous > ONSET IN INFANCY OMIM:617251 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617251 UNCOMBABLE HAIR SYNDROME 2 HP:0002235 Pili canaliculi IEA IEA OMIM-CS:skinnailshairhair > PILI CANALICULI (SEEN ON SCANNING EM OF HAIR SHAFT CROSS-SECTION) OMIM:617251 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617251 UNCOMBABLE HAIR SYNDROME 2 HP:0030056 Uncombable hair IEA IEA OMIM-CS:skinnailshairhair > UNCOMBABLE HAIR OMIM:617251 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614378 CRANIOECTODERMAL DYSPLASIA 4 HP:0008081 Pes valgus IEA IEA OMIM-CS:skeletalfeet > PES VALGUS OMIM:614378 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617441 THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS HP:0001744 Splenomegaly IEA IEA rare OMIM-CS:abdomenspleen > SPLENOMEGALY (IN SOME PATIENTS) OMIM:617441 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617441 THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS HP:0001903 Anemia IEA IEA OMIM-CS:hematology > ANEMIA OMIM:617441 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617441 THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS HP:0004823 Anisopoikilocytosis IEA IEA OMIM-CS:hematology > ANISOPOIKILOCYTOSIS OMIM:617441 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617441 THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS HP:0001873 Thrombocytopenia IEA IEA OMIM-CS:hematology > THROMBOCYTOPENIA OMIM:617441 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617441 THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617441 HPO:skoehler 13.07.2017 ........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611543 CAVITARY OPTIC DISC ANOMALIES HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:611543 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602390 HEMOCHROMATOSIS, TYPE 2A HP:0001744 Splenomegaly IEA IEA OMIM-CS:abdomenspleen > SPLENOMEGALY OMIM:602390 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602390 HEMOCHROMATOSIS, TYPE 2A HP:0011675 Arrhythmia IEA IEA OMIM-CS:cardiovascularheart > ARRHYTHMIA OMIM:602390 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602390 HEMOCHROMATOSIS, TYPE 2A HP:0001644 Dilated cardiomyopathy IEA IEA OMIM-CS:cardiovascularheart > CARDIOMYOPATHY, DILATED OMIM:602390 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602390 HEMOCHROMATOSIS, TYPE 2A HP:0001635 Congestive heart failure IEA IEA OMIM-CS:cardiovascularheart > HEART FAILURE OMIM:602390 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602390 HEMOCHROMATOSIS, TYPE 2A HP:0000141 Amenorrhea IEA IEA OMIM-CS:genitourinaryinternalgenitaliafemale > AMENORRHEA OMIM:602390 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602390 HEMOCHROMATOSIS, TYPE 2A HP:0000027 Azoospermia IEA IEA OMIM-CS:genitourinaryinternalgenitaliamale > AZOOSPERMIA OMIM:602390 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602390 HEMOCHROMATOSIS, TYPE 2A HP:0000789 Infertility IEA IEA OMIM-CS:genitourinaryinternalgenitaliamale > INFERTILITY OMIM:602390 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602390 HEMOCHROMATOSIS, TYPE 2A HP:0001254 Lethargy IEA IEA OMIM-CS:neurologicbehavioralpsychiatricmanifestations > LETHARGY OMIM:602390 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602390 HEMOCHROMATOSIS, TYPE 2A HP:0001369 Arthritis IEA IEA OMIM-CS:skeletal > ARTHRITIS OMIM:602390 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614883 PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) HP:0005562 Multiple renal cysts IEA IEA OMIM-CS:genitourinarykidneys > MULTIPLE RENAL CYSTS OMIM:614883 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614883 PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) HP:0000260 Wide anterior fontanel IEA IEA OMIM-CS:headandneckhead > LARGE ANTERIOR FONTANEL OMIM:614883 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614883 PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:614883 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614883 PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) HP:0006829 Severe muscular hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA, SEVERE OMIM:614883 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613670 MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES HP:0000316 Hypertelorism IEA IEA OMIM-CS:headandneckeyes > HYPERTELORISM OMIM:613670 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613670 MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES HP:0000639 Nystagmus IEA IEA OMIM-CS:headandneckeyes > NYSTAGMUS OMIM:613670 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613670 MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES HP:0000486 Strabismus IEA IEA OMIM-CS:headandneckeyes > STRABISMUS OMIM:613670 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613670 MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES HP:0000278 Retrognathia IEA IEA OMIM-CS:headandneckface > RETROGNATHIA, MILD OMIM:613670 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613670 MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:613670 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613670 MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES HP:0012448 Delayed myelination IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > DELAYED MYELINATION (IN SOME PATIENTS) OMIM:613670 HPO:skoehler 13.07.2017 ...........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610205 ALAGILLE SYNDROME 2 HP:0002611 Cholestatic liver disease IEA IEA OMIM-CS:abdomenliver > CHOLESTATIC LIVER DISEASE OMIM:610205 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610205 ALAGILLE SYNDROME 2 HP:0001642 Pulmonic stenosis IEA IEA OMIM-CS:cardiovascularheart > PULMONIC STENOSIS OMIM:610205 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610205 ALAGILLE SYNDROME 2 HP:0001636 Tetralogy of Fallot IEA IEA OMIM-CS:cardiovascularheart > TETROLOGY OF FALLOT OMIM:610205 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610205 ALAGILLE SYNDROME 2 HP:0000822 Hypertension IEA IEA OMIM-CS:cardiovascularvascular > HYPERTENSION OMIM:610205 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610205 ALAGILLE SYNDROME 2 HP:0000107 Renal cyst IEA IEA OMIM-CS:genitourinarykidneys > CYSTIC KIDNEYS OMIM:610205 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610205 ALAGILLE SYNDROME 2 HP:0000790 Hematuria IEA IEA OMIM-CS:genitourinarykidneys > HEMATURIA OMIM:610205 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610205 ALAGILLE SYNDROME 2 HP:0000093 Proteinuria IEA IEA OMIM-CS:genitourinarykidneys > PROTEINURIA OMIM:610205 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610205 ALAGILLE SYNDROME 2 HP:0000089 Renal hypoplasia IEA IEA OMIM-CS:genitourinarykidneys > SMALL KIDNEYS OMIM:610205 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610205 ALAGILLE SYNDROME 2 HP:0000627 Posterior embryotoxon IEA IEA OMIM-CS:headandneckeyes > POSTERIOR EMBRYOTOXON OMIM:610205 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610205 ALAGILLE SYNDROME 2 HP:0000307 Pointed chin IEA IEA OMIM-CS:headandneckface > POINTED CHIN OMIM:610205 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610205 ALAGILLE SYNDROME 2 HP:0003189 Long nose IEA IEA OMIM-CS:headandnecknose > LONG NOSE OMIM:610205 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610205 ALAGILLE SYNDROME 2 HP:0003812 Phenotypic variability IEA IEA OMIM-CS:miscellaneous > VARIABLE PHENOTYPE OMIM:610205 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:259690 OSTEOPENIA AND SPARSE HAIR HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:muscle > HYPOTONIA OMIM:259690 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:308230 IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1 HP:0030812 Enlarged tonsils IEA IEA OMIM-CS:headandneckmouth > TONSILLAR HYPERTROPHY OMIM:308230 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 HP:0000490 Deeply set eye IEA IEA OMIM-CS:headandneckeyes > DEEP-SET EYES OMIM:615074 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 HP:0000540 Hypermetropia IEA IEA OMIM-CS:headandneckeyes > HYPERMETROPIA OMIM:615074 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 HP:0000316 Hypertelorism IEA IEA OMIM-CS:headandneckeyes > HYPERTELORISM OMIM:615074 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 HP:0000581 Blepharophimosis IEA IEA OMIM-CS:headandneckeyes > NARROW PALPEBRAL FISSURES OMIM:615074 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 HP:0000337 Broad forehead IEA IEA OMIM-CS:headandneckface > BROAD FOREHEAD OMIM:615074 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 HP:0000154 Wide mouth IEA IEA OMIM-CS:headandneckmouth > BROAD MOUTH OMIM:615074 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 HP:0000219 Thin upper lip vermilion IEA IEA OMIM-CS:headandneckmouth > THIN UPPER LIP OMIM:615074 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 HP:0000431 Wide nasal bridge IEA IEA OMIM-CS:headandnecknose > BROAD NASAL BRIDGE OMIM:615074 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 HP:0003593 Infantile onset IEA IEA OMIM-CS:miscellaneous > ONSET IN INFANCY OMIM:615074 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 HP:0000752 Hyperactivity IEA IEA rare OMIM-CS:neurologicbehavioralpsychiatricmanifestations > HYPERACTIVITY (IN SOME PATIENTS) OMIM:615074 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 HP:0100033 Tics IEA IEA rare OMIM-CS:neurologicbehavioralpsychiatricmanifestations > TICS (IN SOME PATIENTS) OMIM:615074 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 HP:0002465 Poor speech IEA IEA OMIM-CS:neurologiccentralnervoussystem > POOR SPEECH OMIM:615074 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 HP:0010511 Long toe IEA IEA OMIM-CS:skeletalfeet > LONG TOES OMIM:615074 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 HP:0100807 Long fingers IEA IEA OMIM-CS:skeletalhands > LONG FINGERS OMIM:615074 HPO:skoehler 13.07.2017 .......filter this Mon May 29 00:00:00 CEST 2017 OMIM:615574 #615574 ASPARAGINE SYNTHETASE DEFICIENCY; ASNSD;;ASNS DEFICIENCY HP:0012736 Profound global developmental delay TAS TAS OMIM:615574 HPO:probinson 2017-05-29 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615574 ASPARAGINE SYNTHETASE DEFICIENCY HP:0001263 Global developmental delay IEA IEA MODIFIER:PROFOUND;OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT, PROFOUND OMIM:615574 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616486 MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE HP:0000582 Upslanted palpebral fissure IEA IEA OMIM-CS:headandneckeyes > UPSLANTING PALPEBRAL FISSURES (FAMILY C) OMIM:616486 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616486 MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE HP:0000253 Progressive microcephaly IEA IEA OMIM-CS:headandneckhead > MICROCEPHALY, PROGRESSIVE (UP TO -6.2 SD) OMIM:616486 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616486 MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:616486 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616486 MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE HP:0003577 Congenital onset IEA IEA OMIM-CS:miscellaneous > ONSET AT BIRTH OMIM:616486 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616486 MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE HP:0003676 Progressive IEA IEA OMIM-CS:miscellaneous > PROGRESSIVE DISORDER OMIM:616486 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616486 MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA (FAMILIES A AND B) OMIM:616486 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616486 MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE HP:0002365 Hypoplasia of the brainstem IEA IEA OMIM-CS:neurologiccentralnervoussystem > BRAINSTEM HYPOPLASIA (FAMILIES A AND B) OMIM:616486 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616486 MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE HP:0001321 Cerebellar hypoplasia IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR HYPOPLASIA (FAMILIES A AND B) OMIM:616486 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616486 MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE HP:0010864 Intellectual disability, severe IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, SEVERE OMIM:616486 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616486 MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE HP:0002540 Inability to walk IEA IEA OMIM-CS:neurologiccentralnervoussystem > NON-AMBULATORY (FAMILIES A AND B) OMIM:616486 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616486 MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE HP:0001250 Seizures IEA IEA OMIM-CS:neurologiccentralnervoussystem > SEIZURES (FAMILIES A AND B) OMIM:616486 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616486 MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE HP:0002064 Spastic gait IEA IEA OMIM-CS:neurologiccentralnervoussystem > SPASTIC GAIT (FAMILY C) OMIM:616486 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616486 MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE HP:0002079 Hypoplasia of the corpus callosum IEA IEA OMIM-CS:neurologiccentralnervoussystem > THIN CORPUS CALLOSUM (FAMILIES A AND B) OMIM:616486 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616486 MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE HP:0001762 Talipes equinovarus IEA IEA OMIM-CS:skeletalfeet > TALIPES EQUINOVARUS (FAMILIES A AND B) OMIM:616486 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614609 COFFIN-SIRIS SYNDROME 4 HP:0011968 Feeding difficulties IEA IEA OMIM-CS:abdomengastrointestinal > FEEDING PROBLEMS OMIM:614609 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614609 COFFIN-SIRIS SYNDROME 4 HP:0030680 Abnormality of cardiovascular system morphology IEA IEA OMIM-CS:cardiovascularheart > CONGENITAL HEART DEFECTS OMIM:614609 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614609 COFFIN-SIRIS SYNDROME 4 HP:0004322 Short stature IEA IEA OMIM-CS:growthheight > SHORT STATURE OMIM:614609 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614609 COFFIN-SIRIS SYNDROME 4 HP:0001511 Intrauterine growth retardation IEA IEA OMIM-CS:growthother > INTRAUTERINE GROWTH RETARDATION OMIM:614609 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614609 COFFIN-SIRIS SYNDROME 4 HP:0000365 Hearing impairment IEA IEA OMIM-CS:headandneckears > HEARING IMPAIRMENT OMIM:614609 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614609 COFFIN-SIRIS SYNDROME 4 HP:0000280 Coarse facial features IEA IEA OMIM-CS:headandneckface > COARSE FACIES OMIM:614609 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614609 COFFIN-SIRIS SYNDROME 4 HP:0000154 Wide mouth IEA IEA OMIM-CS:headandneckmouth > LARGE MOUTH OMIM:614609 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614609 COFFIN-SIRIS SYNDROME 4 HP:0000158 Macroglossia IEA IEA OMIM-CS:headandneckmouth > MACROGLOSSIA OMIM:614609 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614609 COFFIN-SIRIS SYNDROME 4 HP:0000463 Anteverted nares IEA IEA OMIM-CS:headandnecknose > ANTEVERTED NOSTRILS OMIM:614609 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614609 COFFIN-SIRIS SYNDROME 4 HP:0000445 Wide nose IEA IEA OMIM-CS:headandnecknose > BROAD NOSE OMIM:614609 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614609 COFFIN-SIRIS SYNDROME 4 HP:0005280 Depressed nasal bridge IEA IEA OMIM-CS:headandnecknose > FLAT NASAL BRIDGE OMIM:614609 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614609 COFFIN-SIRIS SYNDROME 4 HP:0009928 Thick nasal alae IEA IEA OMIM-CS:headandnecknose > THICK NASAL ALAE OMIM:614609 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614609 COFFIN-SIRIS SYNDROME 4 HP:0001273 Abnormality of the corpus callosum IEA IEA OMIM-CS:neurologiccentralnervoussystem > ABNORMAL CORPUS CALLOSUM OMIM:614609 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614609 COFFIN-SIRIS SYNDROME 4 HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:614609 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614609 COFFIN-SIRIS SYNDROME 4 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:614609 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614609 COFFIN-SIRIS SYNDROME 4 HP:0002750 Delayed skeletal maturation IEA IEA OMIM-CS:skeletal > DELAYED BONE AGE OMIM:614609 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614609 COFFIN-SIRIS SYNDROME 4 HP:0009835 Aplasia/Hypoplasia of the distal phalanges of the hand IEA IEA OMIM-CS:skeletalfeet > HYPOPLASTIC TO ABSENT TERMINAL PHALANGES (ESPECIALLY FIFTH TOE) OMIM:614609 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614609 COFFIN-SIRIS SYNDROME 4 HP:0009835 Aplasia/Hypoplasia of the distal phalanges of the hand IEA IEA OMIM-CS:skeletalhands > HYPOPLASTIC TO ABSENT TERMINAL PHALANGES (ESPECIALLY FIFTH FINGER) OMIM:614609 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614609 COFFIN-SIRIS SYNDROME 4 HP:0002650 Scoliosis IEA IEA OMIM-CS:skeletalspine > SCOLIOSIS OMIM:614609 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614609 COFFIN-SIRIS SYNDROME 4 HP:0000998 Hypertrichosis IEA IEA OMIM-CS:skinnailshairhair > HYPERTRICHOSIS OMIM:614609 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613720 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:613720 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:250620 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:250620 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617056 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4 HP:0012622 Chronic kidney disease IEA IEA OMIM-CS:genitourinarykidneys > CHRONIC KIDNEY DISEASE OMIM:617056 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617056 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4 HP:0000107 Renal cyst IEA IEA OMIM-CS:genitourinarykidneys > CYSTIC KIDNEYS (FAMILY B) OMIM:617056 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617056 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4 HP:0000097 Focal segmental glomerulosclerosis IEA IEA OMIM-CS:genitourinarykidneys > FOCAL GLOMERULOSCLEROSIS OMIM:617056 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617056 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4 HP:0000112 Nephropathy IEA IEA OMIM-CS:genitourinarykidneys > NEPHROPATHY OMIM:617056 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617056 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4 HP:0004322 Short stature IEA IEA OMIM-CS:growthheight > SHORT STATURE (FAMILY A) OMIM:617056 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617056 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4 HP:0001511 Intrauterine growth retardation IEA IEA OMIM-CS:growthother > INTRAUTERINE GROWTH RETARDATION (FAMILY A) OMIM:617056 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617056 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4 HP:0001903 Anemia HP:0003577 Congenital onset IEA IEA OMIM-CS:hematology > ANEMIA, CONGENITAL OMIM:617056 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617056 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4 HP:0001875 Neutropenia IEA IEA OMIM-CS:immunology > NEUTROPENIA (FAMILY B) OMIM:617056 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617056 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:617056 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617056 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4 HP:0002149 Hyperuricemia IEA IEA OMIM-CS:laboratoryabnormalities > HYPERURICEMIA, MILD OMIM:617056 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617056 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4 HP:0003676 Progressive IEA IEA OMIM-CS:miscellaneous > PROGRESSIVE DISORDER OMIM:617056 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617056 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4 HP:0100543 Cognitive impairment IEA IEA OMIM-CS:neurologiccentralnervoussystem > COGNITIVE IMPAIRMENT, MILD (FAMILY A) OMIM:617056 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617056 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4 HP:0001997 Gout IEA IEA OMIM-CS:skeletallimbs > GOUT (FAMILY B) OMIM:617056 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615612 DEVELOPMENTAL DYSPLASIA OF THE HIP 2 HP:0030838 Hip pain IEA IEA OMIM-CS:skeletalpelvis > HIP PAIN OMIM:615612 HPO:skoehler 13.07.2017 ....... filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617432 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 HP:0000823 Delayed puberty IEA IEA OMIM-CS:endocrinefeatures > DELAYED PUBERTY OMIM:617432 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617432 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 HP:0001518 Small for gestational age IEA IEA OMIM-CS:growthheight > LOW BIRTH WEIGHT OMIM:617432 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617432 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 HP:0004322 Short stature IEA IEA OMIM-CS:growthweight > SHORT STATURE OMIM:617432 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617432 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 HP:0000252 Microcephaly IEA IEA OMIM-CS:headandneckhead > MICROCEPHALY, VARIABLE (RANGE -2 TO -7 SD) OMIM:617432 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617432 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617432 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617432 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 HP:0003828 Variable expressivity IEA IEA OMIM-CS:miscellaneous > VARIABLE SEVERITY OMIM:617432 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617432 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 HP:0012448 Delayed myelination IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > DELAYED MYELINATION (1 PATIENT) OMIM:617432 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617432 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:617432 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617432 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 HP:0001256 Intellectual disability, mild IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, MILD OMIM:617432 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617432 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 HP:0002750 Delayed skeletal maturation IEA IEA OMIM-CS:skeletal > DELAYED BONE AGE OMIM:617432 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:164210 HEMIFACIAL MICROSOMIA HP:0011332 Hemifacial hypoplasia IEA IEA OMIM-CS:preferredtitle > HEMIFACIAL MICROSOMIA OMIM:164210 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312700 RETINOSCHISIS 1, X-LINKED, JUVENILE HP:0007667 Cystic retinal degeneration IEA IEA OMIM-CS:headandneckeyes > CYSTIC RETINAL DEGENERATION OMIM:312700 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312700 RETINOSCHISIS 1, X-LINKED, JUVENILE HP:0001105 Retinal atrophy IEA IEA OMIM-CS:headandneckeyes > RETINAL ATROPHY OMIM:312700 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312700 RETINOSCHISIS 1, X-LINKED, JUVENILE HP:0000546 Retinal degeneration IEA IEA OMIM-CS:headandneckeyes > RETINAL DEGENERATION OMIM:312700 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601214 NAXOS DISEASE HP:0025092 Epidermal acanthosis IEA IEA OMIM-CS:skinnailshairskinhistology > ACANTHOSIS OMIM:601214 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:266100 EPILEPSY, PYRIDOXINE-DEPENDENT HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:266100 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:266100 EPILEPSY, PYRIDOXINE-DEPENDENT HP:0025116 Fetal distress IEA IEA OMIM-CS:prenatalmanifestations > FETAL DISTRESS OMIM:266100 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615883 MYOPATHY, TUBULAR AGGREGATE, 2 HP:0003701 Proximal muscle weakness IEA IEA OMIM-CS:musclesofttissue > MUSCLE WEAKNESS, PROXIMAL OMIM:615883 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:301940 BRACHYDACTYLY, MONONEN TYPE HP:0005802 Coalescence of tarsal bones IEA IEA OMIM-CS:skeletalfeet > COALESCENCE OF TARSAL BONES OMIM:301940 HPO:skoehler 13.07.2017 .........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614344 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 23 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:614344 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614344 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 23 HP:0010864 Intellectual disability, severe IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, SEVERE OMIM:614344 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614344 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 23 HP:0001270 Motor delay IEA IEA MODIFIER:MODERATE;OMIM-CS:neurologiccentralnervoussystem > MOTOR DELAY, MODERATE OMIM:614344 HPO:skoehler 13.07.2017 .......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:137400 GEOGRAPHIC TONGUE AND FISSURED TONGUE HP:0025252 Geographic tongue IEA IEA OMIM-CS:mouth > GEOGRAPHIC TONGUE OMIM:137400 HPO:skoehler 13.07.2017 .......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612350 SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE HP:0001015 Prominent superficial veins IEA IEA OMIM-CS:skinnailshairskin > PROMINENT VEINS OMIM:612350 HPO:skoehler 13.07.2017 ........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616407 BROWN SYNDROME HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:616407 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:277900 WILSON DISEASE HP:0001402 Hepatocellular carcinoma IEA IEA rare OMIM-CS:abdomenliver > HEPATOCELLULAR CARCINOMA (IN SOME PATIENTS) OMIM:277900 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616568 GLIOMA SUSCEPTIBILITY 9 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:616568 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616568 GLIOMA SUSCEPTIBILITY 9 HP:0003581 Adult onset IEA IEA OMIM-CS:miscellaneous > ADULT ONSET OMIM:616568 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616568 GLIOMA SUSCEPTIBILITY 9 HP:0003829 Incomplete penetrance IEA IEA OMIM-CS:miscellaneous > INCOMPLETE PENETRANCE OMIM:616568 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300423 MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE HP:0003828 Variable expressivity IEA IEA OMIM-CS:miscellaneous > VARIABLE EXPRESSIVITY OMIM:300423 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300423 MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE HP:0002345 Action tremor IEA IEA OMIM-CS:neurologiccentralnervoussystem > ACTION TREMOR (1 PATIENT FROM FAMILY A) OMIM:300423 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300423 MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE HP:0011812 Agraphesthesia IEA IEA OMIM-CS:neurologiccentralnervoussystem > AGRAPHESTHESIA (FAMILY A) OMIM:300423 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300423 MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE HP:0010527 Astereognosia IEA IEA OMIM-CS:neurologiccentralnervoussystem > ASTEREOGNOSIS (FAMILY A) OMIM:300423 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300423 MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE HP:0002067 Bradykinesia IEA IEA OMIM-CS:neurologiccentralnervoussystem > BRADYKINESIA (FAMILY A) OMIM:300423 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300423 MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE HP:0001272 Cerebellar atrophy IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR ATROPHY (FAMILY A) OMIM:300423 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300423 MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE HP:0002059 Cerebral atrophy IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY (1 PATIENT FROM FAMILY A) OMIM:300423 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300423 MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE HP:0003487 Babinski sign IEA IEA OMIM-CS:neurologiccentralnervoussystem > EXTENSOR PLANTAR RESPONSES (1 PATIENT FROM FAMILY A) OMIM:300423 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300423 MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE HP:0001288 Gait disturbance IEA IEA OMIM-CS:neurologiccentralnervoussystem > GAIT DIFFICULTIES (FAMILY A) OMIM:300423 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300423 MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE HP:0000338 Hypomimic face IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOMIMIA (FAMILY A) OMIM:300423 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300423 MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE HP:0001300 Parkinsonism IEA IEA OMIM-CS:neurologiccentralnervoussystem > PARKINSONISM (FAMILY A) OMIM:300423 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300423 MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE HP:0002079 Hypoplasia of the corpus callosum IEA IEA OMIM-CS:neurologiccentralnervoussystem > THIN CORPUS CALLOSUM (1 PATIENT FROM FAMILY A) OMIM:300423 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300423 MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE HP:0001265 Hyporeflexia IEA IEA OMIM-CS:neurologicperipheralnervoussystem > HYPOREFLEXIA (FAMILY A) OMIM:300423 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613477 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 HP:0007366 Atrophy/Degeneration affecting the brainstem IEA IEA OMIM-CS:neurologiccentralnervoussystem > BRAINSTEM ATROPHY OMIM:613477 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613477 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:613477 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:133190 SPINOCEREBELLAR ATAXIA 34 HP:0001257 Spasticity IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > SPASTICITY, MILD (IN SOME PATIENTS) OMIM:133190 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617393 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION HP:0011968 Feeding difficulties IEA IEA OMIM-CS:abdomengastrointestinal > FEEDING DIFFICULTIES, SEVERE OMIM:617393 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617393 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION HP:0001508 Failure to thrive IEA IEA OMIM-CS:growthother > FAILURE TO THRIVE OMIM:617393 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617393 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION HP:0000518 Cataract IEA IEA OMIM-CS:headandneckeyes > CATARACTS OMIM:617393 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617393 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION HP:0000252 Microcephaly IEA IEA OMIM-CS:headandneckhead > MICROCEPHALY OMIM:617393 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617393 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION HP:0002421 Poor head control IEA IEA OMIM-CS:headandneckhead > POOR HEAD CONTROL OMIM:617393 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617393 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION HP:0000455 Broad nasal tip IEA IEA OMIM-CS:headandnecknose > BROAD NASAL TIP OMIM:617393 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617393 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:617393 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617393 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:617393 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617393 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION HP:0000737 Irritability IEA IEA OMIM-CS:neurologicbehavioralpsychiatricmanifestations > IRRITABILITY OMIM:617393 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617393 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION HP:0000733 Stereotypy IEA IEA OMIM-CS:neurologicbehavioralpsychiatricmanifestations > REPETITIVE MOVEMENTS OMIM:617393 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617393 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION HP:0002059 Cerebral atrophy IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY OMIM:617393 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617393 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION HP:0012448 Delayed myelination IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED MYELINATION OMIM:617393 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617393 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION HP:0002355 Difficulty walking IEA IEA OMIM-CS:neurologiccentralnervoussystem > DIFFICULTY WALKING OMIM:617393 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617393 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > GLOBAL DEVELOPMENTAL DELAY, SEVERE TO PROFOUND OMIM:617393 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617393 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION HP:0001249 Intellectual disability IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, SEVERE TO PROFOUND OMIM:617393 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617393 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION HP:0001344 Absent speech IEA IEA OMIM-CS:neurologiccentralnervoussystem > LACK OF SPEECH OMIM:617393 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617393 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION HP:0001250 Seizures IEA IEA OMIM-CS:neurologiccentralnervoussystem > SEIZURES OMIM:617393 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617393 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION HP:0001257 Spasticity IEA IEA OMIM-CS:neurologiccentralnervoussystem > SPASTICITY (IN 1 OLDER PATIENT) OMIM:617393 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617393 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION HP:0001371 Flexion contracture IEA IEA OMIM-CS:skeletal > CONTRACTURES (IN 1 OLDER PATIENT) OMIM:617393 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617393 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION HP:0002650 Scoliosis IEA IEA OMIM-CS:skeletalspine > SCOLIOSIS (IN 1 OLDER PATIENT) OMIM:617393 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611095 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9 HP:0001510 Growth delay IEA IEA OMIM-CS:growthother > GROWTH RETARDATION OMIM:611095 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611095 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9 HP:0010864 Intellectual disability, severe IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, SEVERE OMIM:611095 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611095 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9 HP:0001270 Motor delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > MOTOR DELAY, SEVERE OMIM:611095 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE HP:0000407 Sensorineural hearing impairment IEA IEA rare OMIM-CS:headandneckears > SENSORINEURAL HEARING LOSS (IN SOME PATIENTS) OMIM:270800 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE HP:0000518 Cataract IEA IEA rare OMIM-CS:headandneckeyes > CATARACT (IN SOME PATIENTS) OMIM:270800 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE HP:0000639 Nystagmus IEA IEA rare OMIM-CS:headandneckeyes > NYSTAGMUS (IN SOME PATIENTS) OMIM:270800 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE HP:0100543 Cognitive impairment IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > COGNITIVE IMPAIRMENT (IN SOME PATIENTS) OMIM:270800 HPO:skoehler 13.07.2017 .......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614498 RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL HP:0031165 Multifocal seizures IEA IEA OMIM-CS:neurologiccentralnervoussystem > MULTIFOCAL SEIZURES OMIM:614498 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616482 ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS HP:0000365 Hearing impairment IEA IEA OMIM-CS:headandneckears > HEARING LOSS, MILD-TO-MODERATE OMIM:616482 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613706 NOONAN SYNDROME 7 HP:0002033 Poor suck IEA IEA OMIM-CS:abdomengastrointestinal > POOR SUCK OMIM:613706 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613706 NOONAN SYNDROME 7 HP:0002015 Dysphagia IEA IEA OMIM-CS:abdomengastrointestinal > POOR SWALLOWING OMIM:613706 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613706 NOONAN SYNDROME 7 HP:0000341 Narrow forehead IEA IEA OMIM-CS:headandneckhead > BITEMPORAL NARROWING OMIM:613706 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613706 NOONAN SYNDROME 7 HP:0005280 Depressed nasal bridge IEA IEA OMIM-CS:headandnecknose > FLAT NASAL BRIDGE OMIM:613706 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613706 NOONAN SYNDROME 7 HP:0100543 Cognitive impairment IEA IEA OMIM-CS:neurologiccentralnervoussystem > COGNITIVE DEFICITS, MILD TO MODERATE OMIM:613706 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613706 NOONAN SYNDROME 7 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:613706 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613706 NOONAN SYNDROME 7 HP:0002650 Scoliosis IEA IEA rare OMIM-CS:skeletalspine > SCOLIOSIS (IN SOME PATIENTS) OMIM:613706 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:280000 COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:280000 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:603909 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA HP:0025300 Malar rash IEA IEA OMIM-CS:skinnailshairskin > MALAR RASH OMIM:603909 HPO:skoehler 2017-07-13 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:100650 ALDEHYDE DEHYDROGENASE 2 FAMILY HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:100650 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610163 IMMUNODEFICIENCY 25 HP:0003593 Infantile onset IEA IEA OMIM-CS:miscellaneous > ONSET IN INFANCY OMIM:610163 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611228 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J HP:0003431 Decreased motor nerve conduction velocity IEA IEA OMIM-CS:neurologicperipheralnervoussystem > DECREASED MOTOR NERVE CONDUCTION VELOCITIES OMIM:611228 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613573 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 HP:0000687 Widely spaced teeth IEA IEA OMIM-CS:headandneckteeth > WIDELY-SPACED TEETH OMIM:613573 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613573 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:613573 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613573 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 HP:0002046 Heat intolerance IEA IEA rare OMIM-CS:miscellaneous > HEAT INTOLERANCE (IN SOME PATIENTS) OMIM:613573 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613573 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 HP:0002550 Absent facial hair IEA IEA OMIM-CS:skinnailshairhair > ABSENT FACIAL HAIR (IN SOME MALES) OMIM:613573 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613573 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 HP:0002208 Coarse hair IEA IEA OMIM-CS:skinnailshairhair > COARSE HAIR OMIM:613573 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613573 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 HP:0001596 Alopecia IEA IEA MODIFIER:PROGRESSIVE;OMIM-CS:skinnailshairhair > HAIR LOSS, PROGRESSIVE OMIM:613573 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613573 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 HP:0002232 Patchy alopecia IEA IEA OMIM-CS:skinnailshairhair > PATCHY ALOPECIA OMIM:613573 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613573 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 HP:0001800 Hypoplastic toenails IEA IEA OMIM-CS:skinnailshairnails > HYPOPLASTIC TOENAILS OMIM:613573 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:269250 SCHNECKENBECKEN DYSPLASIA HP:0031026 Snail-like ilia IEA IEA OMIM-CS:preferredtitle > SCHNECKENBECKEN DYSPLASIA OMIM:269250 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:269250 SCHNECKENBECKEN DYSPLASIA HP:0031026 Snail-like ilia IEA IEA OMIM-CS:skeletalpelvis > SNAIL-SHAPED ILIA OMIM:269250 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600679 DERMOID CYSTS, FAMILIAL FRONTONASAL HP:0000738 Hallucinations IEA IEA OMIM-CS:neurologiccentralnervoussystem > HALLUCINATIONS OMIM:600679 HPO:skoehler 13.07.2017 . ............filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617188 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 HP:0000252 Microcephaly IEA IEA rare OMIM-CS:headandneckhead > SMALL HEAD CIRCUMFERENCE (IN SOME PATIENTS) OMIM:617188 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617188 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617188 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617188 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 HP:0003577 Congenital onset IEA IEA OMIM-CS:miscellaneous > ONSET AT BIRTH OMIM:617188 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617188 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:617188 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617188 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 HP:0000729 Autistic behavior IEA IEA rare OMIM-CS:neurologicbehavioralpsychiatricmanifestations > AUTISM SPECTRUM DISORDER (IN SOME PATIENTS) OMIM:617188 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617188 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:617188 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617188 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 HP:0002373 Febrile seizures IEA IEA OMIM-CS:neurologiccentralnervoussystem > FEBRILE SEIZURES OMIM:617188 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617188 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 HP:0007359 Focal seizures IEA IEA OMIM-CS:neurologiccentralnervoussystem > FOCAL SEIZURES OMIM:617188 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617188 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 HP:0002197 Generalized seizures IEA IEA OMIM-CS:neurologiccentralnervoussystem > GENERALIZED SEIZURES OMIM:617188 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617188 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 HP:0001347 Hyperreflexia IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > HYPERREFLEXIA (IN SOME PATIENTS) OMIM:617188 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617188 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 HP:0002540 Inability to walk IEA IEA OMIM-CS:neurologiccentralnervoussystem > INABILITY TO WALK OMIM:617188 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617188 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 HP:0002123 Generalized myoclonic seizures IEA IEA OMIM-CS:neurologiccentralnervoussystem > MYOCLONIC SEIZURES OMIM:617188 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617188 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 HP:0002126 Polymicrogyria IEA IEA OMIM-CS:neurologiccentralnervoussystem > POLYMICROGYRIA, MILD (2 PATIENTS) OMIM:617188 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617188 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 HP:0001250 Seizures IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > SEIZURES (IN SOME PATIENTS) OMIM:617188 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617188 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 HP:0008936 Muscular hypotonia of the trunk IEA IEA OMIM-CS:neurologiccentralnervoussystem > TRUNCAL HYPOTONIA OMIM:617188 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:308300 INCONTINENTIA PIGMENTI HP:0007750 Hypoplasia of the fovea IEA IEA OMIM-CS:headandneckeyes > FOVEAL HYPOPLASIA OMIM:308300 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617127 OROFACIODIGITAL SYNDROME XV HP:0000316 Hypertelorism IEA IEA OMIM-CS:headandneckeyes > HYPERTELORISM OMIM:617127 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617127 OROFACIODIGITAL SYNDROME XV HP:0012368 Flat face IEA IEA OMIM-CS:headandneckface > FLAT FACIAL PROFILE OMIM:617127 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617127 OROFACIODIGITAL SYNDROME XV HP:0000180 Lobulated tongue IEA IEA OMIM-CS:headandneckmouth > LOBULATED TONGUE OMIM:617127 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617127 OROFACIODIGITAL SYNDROME XV HP:0000463 Anteverted nares IEA IEA OMIM-CS:headandnecknose > UPTURNED NARES OMIM:617127 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617127 OROFACIODIGITAL SYNDROME XV HP:0000431 Wide nasal bridge IEA IEA OMIM-CS:headandnecknose > WIDE NASAL BRIDGE OMIM:617127 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617127 OROFACIODIGITAL SYNDROME XV HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617127 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617127 OROFACIODIGITAL SYNDROME XV HP:0001274 Agenesis of corpus callosum IEA IEA OMIM-CS:neurologiccentralnervoussystem > AGENESIS OF THE CORPUS CALLOSUM OMIM:617127 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617127 OROFACIODIGITAL SYNDROME XV HP:0002119 Ventriculomegaly IEA IEA OMIM-CS:neurologiccentralnervoussystem > DILATED VENTRICLES OMIM:617127 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617127 OROFACIODIGITAL SYNDROME XV HP:0002419 Molar tooth sign on MRI IEA IEA OMIM-CS:neurologiccentralnervoussystem > MOLAR TOOTH SIGN OMIM:617127 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617127 OROFACIODIGITAL SYNDROME XV HP:0010055 Broad hallux IEA IEA OMIM-CS:skeletalfeet > BROAD HALLUX OMIM:617127 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:201475 ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:201475 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616239 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA (PATIENT A) OMIM:616239 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:208870 ATAXIA-MICROCEPHALY-CATARACT SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:208870 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:250100 METACHROMATIC LEUKODYSTROPHY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:250100 HPO:skoehler 13.07.2017 ...........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617236 CONE-ROD DYSTROPHY AND HEARING LOSS HP:0000407 Sensorineural hearing impairment IEA IEA OMIM-CS:headandneckears > HEARING LOSS, SENSORINEURAL OMIM:617236 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617236 CONE-ROD DYSTROPHY AND HEARING LOSS HP:0000608 Macular degeneration IEA IEA OMIM-CS:headandneckeyes > MACULAR DEGENERATION OMIM:617236 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617236 CONE-ROD DYSTROPHY AND HEARING LOSS HP:0000639 Nystagmus IEA IEA OMIM-CS:headandneckeyes > NYSTAGMUS OMIM:617236 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617236 CONE-ROD DYSTROPHY AND HEARING LOSS HP:0000613 Photophobia IEA IEA OMIM-CS:headandneckeyes > PHOTOPHOBIA OMIM:617236 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617236 CONE-ROD DYSTROPHY AND HEARING LOSS HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617236 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:257200 NIEMANN-PICK DISEASE, TYPE A HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:257200 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 HP:0011968 Feeding difficulties IEA IEA OMIM-CS:abdomengastrointestinal > POOR FEEDING OMIM:616801 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 HP:0001511 Intrauterine growth retardation IEA IEA rare OMIM-CS:growthother > INTRAUTERINE GROWTH RETARDATION (IN SOME PATIENTS) OMIM:616801 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 HP:0000369 Low-set ears IEA IEA OMIM-CS:headandneckears > LOW-SET EARS OMIM:616801 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 HP:0000358 Posteriorly rotated ears IEA IEA OMIM-CS:headandneckears > POSTERIORLY ROTATED EARS OMIM:616801 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 HP:0000494 Downslanted palpebral fissures IEA IEA rare OMIM-CS:headandneckeyes > DOWNSLANTING PALPEBRAL FISSURES (IN SOME PATIENTS) OMIM:616801 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 HP:0000286 Epicanthus IEA IEA OMIM-CS:headandneckeyes > EPICANTHAL FOLDS OMIM:616801 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 HP:0000639 Nystagmus IEA IEA OMIM-CS:headandneckeyes > NYSTAGMUS OMIM:616801 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 HP:0000508 Ptosis IEA IEA OMIM-CS:headandneckeyes > PTOSIS OMIM:616801 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 HP:0002007 Frontal bossing IEA IEA OMIM-CS:headandneckface > FRONTAL BOSSING OMIM:616801 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 HP:0000348 High forehead IEA IEA OMIM-CS:headandneckface > HIGH FOREHEAD OMIM:616801 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 HP:0000322 Short philtrum IEA IEA OMIM-CS:headandneckface > SHORT PHILTRUM OMIM:616801 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 HP:0000325 Triangular face IEA IEA OMIM-CS:headandneckface > TRIANGULAR FACE OMIM:616801 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 HP:0000248 Brachycephaly IEA IEA OMIM-CS:headandneckhead > BRACHYCEPHALY OMIM:616801 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 HP:0000194 Open mouth IEA IEA OMIM-CS:headandneckmouth > OPEN MOUTH OMIM:616801 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 HP:0000219 Thin upper lip vermilion IEA IEA OMIM-CS:headandneckmouth > THIN UPPER LIP OMIM:616801 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 HP:0000470 Short neck IEA IEA OMIM-CS:headandneckneck > SHORT NECK OMIM:616801 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 HP:0000463 Anteverted nares IEA IEA OMIM-CS:headandnecknose > ANTEVERTED NARES OMIM:616801 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 HP:0000414 Bulbous nose IEA IEA OMIM-CS:headandnecknose > BULBOUS NOSE OMIM:616801 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 HP:0000426 Prominent nasal bridge IEA IEA OMIM-CS:headandnecknose > PROMINENT NASAL BRIDGE OMIM:616801 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA, SEVERE, PERSISTENT OMIM:616801 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 HP:0002059 Cerebral atrophy IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY (IN SOME PATIENTS) OMIM:616801 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 HP:0100660 Dyskinesia IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > DYSKINESIAS (IN SOME PATIENTS) OMIM:616801 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 HP:0002187 Intellectual disability, profound IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, PROFOUND OMIM:616801 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 HP:0001250 Seizures IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > SEIZURES, VARIABLE TYPES (IN SOME PATIENTS) OMIM:616801 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 HP:0001182 Tapered finger IEA IEA OMIM-CS:skeletalhands > TAPERING FINGERS OMIM:616801 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 HP:0003273 Hip contracture IEA IEA rare OMIM-CS:skeletalpelvis > HIP CONTRACTURES (IN SOME PATIENTS) OMIM:616801 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 HP:0002650 Scoliosis IEA IEA rare OMIM-CS:skeletalspine > SCOLIOSIS (IN SOME PATIENTS) OMIM:616801 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:607625 NIEMANN-PICK DISEASE, TYPE C2 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:607625 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616084 SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:616084 HPO:skoehler 13.07.2017 ........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608799 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:608799 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608799 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:608799 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:259100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 HP:0010783 Erythema IEA IEA OMIM-CS:skinnailshairskin > FLUSHING OMIM:259100 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604117 VOHWINKEL SYNDROME, VARIANT FORM HP:0025114 Hypergranulosis IEA IEA OMIM-CS:skinnailshairskinhistology > HYPERGRANULOSIS OMIM:604117 HPO:skoehler 13.07.2017 .........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300210 MENTAL RETARDATION, X-LINKED 58 HP:0001419 X-linked recessive inheritance IEA IEA OMIM-CS:inheritance > X-LINKED RECESSIVE OMIM:300210 HPO:skoehler 13.07.2017 ........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614707 BROWN-VIALETTO-VAN LAERE SYNDROME 2 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:614707 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614857 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:614857 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:245348 PYRUVATE DEHYDROGENASE E2 DEFICIENCY HP:0002928 Decreased activity of the pyruvate dehydrogenase complex IEA IEA OMIM-CS:laboratoryabnormalities > DECREASED ACTIVITY OF THE PYRUVATE DEHYDROGENASE COMPLEX (PDH) OMIM:245348 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:245348 PYRUVATE DEHYDROGENASE E2 DEFICIENCY HP:0040284 Very rare IEA IEA OMIM-CS:miscellaneous > VERY RARE OMIM:245348 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:256550 NEURAMINIDASE DEFICIENCY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA (TYPE I AND TYPE II, INFANTILE) OMIM:256550 HPO:skoehler 13.07.2017 .......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616834 MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS HP:0000823 Delayed puberty IEA IEA OMIM-CS:endocrinefeatures > DELAYED PUBERTY OMIM:616834 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616834 MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS HP:0000823 Delayed puberty IEA IEA OMIM-CS:genitourinaryinternalgenitaliafemale > DELAYED PUBERTY OMIM:616834 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616834 MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS HP:0004322 Short stature IEA IEA OMIM-CS:growthheight > SHORT STATURE OMIM:616834 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616834 MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS HP:0000498 Blepharitis IEA IEA OMIM-CS:headandneckeyes > BLEPHARITIS OMIM:616834 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616834 MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS HP:0001256 Intellectual disability, mild IEA IEA OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION, MILD OMIM:616834 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616834 MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS HP:0002829 Arthralgia IEA IEA OMIM-CS:skeletallimbs > ARTHRALGIAS OMIM:616834 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613243 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13 HP:0005110 Atrial fibrillation IEA IEA rare OMIM-CS:cardiovascularheart > ATRIAL FIBRILLATION (IN SOME PATIENTS) OMIM:613243 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613243 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13 HP:0100749 Chest pain IEA IEA OMIM-CS:cardiovascularheart > CHEST PAIN OMIM:613243 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613243 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13 HP:0011711 Left anterior fascicular block IEA IEA rare OMIM-CS:cardiovascularheart > LEFT ANTERIOR HEMIBLOCK (IN SOME PATIENTS) OMIM:613243 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613243 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13 HP:0011712 Right bundle branch block IEA IEA rare OMIM-CS:cardiovascularheart > RIGHT BUNDLE BRANCH BLOCK (IN SOME PATIENTS) OMIM:613243 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613243 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13 HP:0001663 Ventricular fibrillation IEA IEA OMIM-CS:cardiovascularheart > VENTRICULAR FIBRILLATION (MAY BE ASSOCIATED WITH PHYSICAL OR EMOTIONAL STRESS) OMIM:613243 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613243 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:613243 HPO:skoehler 13.07.2017 ....... .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615952 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 HP:0001890 Autoimmune hemolytic anemia IEA IEA OMIM-CS:hematology > AUTOIMMUNE HEMOLYTIC ANEMIA OMIM:615952 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615952 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 HP:0001973 Autoimmune thrombocytopenia IEA IEA OMIM-CS:hematology > AUTOIMMUNE THROMBOCYTOPENIA OMIM:615952 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615952 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 HP:0004313 Decreased antibody level in blood IEA IEA OMIM-CS:immunology > HYPOGAMMAGLOBULINEMIA OMIM:615952 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312612 RETINITIS PIGMENTOSA 6 HP:0001417 X-linked inheritance IEA IEA OMIM-CS:inheritance > X-LINKED OMIM:312612 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617145 NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET HP:0000020 Urinary incontinence IEA IEA rare OMIM-CS:genitourinarybladder > URINARY INCONTINENCE (IN SOME PATIENTS) OMIM:617145 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617145 NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET HP:0000365 Hearing impairment IEA IEA rare OMIM-CS:headandneckears > HEARING LOSS, MILD (IN SOME PATIENTS) OMIM:617145 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617145 NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET HP:0000639 Nystagmus IEA IEA OMIM-CS:headandneckeyes > NYSTAGMUS OMIM:617145 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617145 NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET HP:0000657 Oculomotor apraxia IEA IEA OMIM-CS:headandneckeyes > OCULOMOTOR APRAXIA OMIM:617145 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617145 NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET HP:0000511 Vertical supranuclear gaze palsy IEA IEA OMIM-CS:headandneckeyes > VERTICAL GAZE PALSY OMIM:617145 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617145 NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617145 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617145 NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET HP:0003676 Progressive IEA IEA OMIM-CS:miscellaneous > PROGRESSIVE DISORDER OMIM:617145 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617145 NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET HP:0001272 Cerebellar atrophy IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR ATROPHY (IN SOME PATIENTS) OMIM:617145 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617145 NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET HP:0001317 Abnormality of the cerebellum IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR SIGNS OMIM:617145 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617145 NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET HP:0001268 Mental deterioration IEA IEA OMIM-CS:neurologiccentralnervoussystem > COGNITIVE DECLINE OMIM:617145 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617145 NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET HP:0100543 Cognitive impairment IEA IEA OMIM-CS:neurologiccentralnervoussystem > COGNITIVE IMPAIRMENT OMIM:617145 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617145 NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET HP:0001260 Dysarthria IEA IEA OMIM-CS:neurologiccentralnervoussystem > DYSARTHRIA OMIM:617145 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617145 NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET HP:0002075 Dysdiadochokinesis IEA IEA OMIM-CS:neurologiccentralnervoussystem > DYSDIADOCHOKINESIS OMIM:617145 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617145 NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET HP:0001310 Dysmetria IEA IEA OMIM-CS:neurologiccentralnervoussystem > DYSMETRIA OMIM:617145 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617145 NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET HP:0001332 Dystonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > DYSTONIA OMIM:617145 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617145 NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET HP:0001288 Gait disturbance IEA IEA OMIM-CS:neurologiccentralnervoussystem > GAIT ABNORMALITIES OMIM:617145 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617145 NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET HP:0002066 Gait ataxia IEA IEA OMIM-CS:neurologiccentralnervoussystem > GAIT ATAXIA OMIM:617145 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617145 NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET HP:0001347 Hyperreflexia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPERREFLEXIA OMIM:617145 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617145 NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET HP:0002070 Limb ataxia IEA IEA OMIM-CS:neurologiccentralnervoussystem > LIMB ATAXIA OMIM:617145 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617145 NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET HP:0007256 Abnormal pyramidal signs IEA IEA OMIM-CS:neurologiccentralnervoussystem > PYRAMIDAL SIGNS OMIM:617145 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617145 NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET HP:0001337 Tremor IEA IEA OMIM-CS:neurologiccentralnervoussystem > TREMOR OMIM:617145 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617108 SESSILE SERRATED POLYPOSIS CANCER SYNDROME HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:617108 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611929 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:611929 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologicperipheralnervoussystem > HYPOTONIA OMIM:201300 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:607812 CRANIOLENTICULOSUTURAL DYSPLASIA HP:0000648 Optic atrophy IEA IEA rare OMIM-CS:headandneckeyes > OPTIC ATROPHY, BILATERAL (IN SOME PATIENTS) OMIM:607812 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616833 PAGET DISEASE OF BONE 6 HP:0001677 Coronary artery disease IEA IEA rare OMIM-CS:cardiovascularheart > CORONARY ARTERY DISEASE (IN SOME PATIENTS) OMIM:616833 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616833 PAGET DISEASE OF BONE 6 HP:0001712 Left ventricular hypertrophy IEA IEA rare OMIM-CS:cardiovascularheart > LEFT VENTRICULAR HYPERTROPHY (IN SOME PATIENTS) OMIM:616833 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616833 PAGET DISEASE OF BONE 6 HP:0000121 Nephrocalcinosis IEA IEA rare OMIM-CS:genitourinarykidneys > NEPHROCALCINOSIS (IN SOME PATIENTS) OMIM:616833 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616833 PAGET DISEASE OF BONE 6 HP:0003155 Elevated alkaline phosphatase IEA IEA OMIM-CS:laboratoryabnormalities > INCREASED ALKALINE PHOSPHATASE OMIM:616833 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616833 PAGET DISEASE OF BONE 6 HP:0003581 Adult onset IEA IEA OMIM-CS:miscellaneous > ONSET IN ADULTHOOD OMIM:616833 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616833 PAGET DISEASE OF BONE 6 HP:0002653 Bone pain IEA IEA OMIM-CS:skeletal > BONE PAIN OMIM:616833 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600987 CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION HP:0002020 Gastroesophageal reflux IEA IEA OMIM-CS:abdomengastrointestinal > GASTROESOPHAGEAL REFLUX OMIM:600987 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600987 CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION HP:0001629 Ventricular septal defect IEA IEA OMIM-CS:cardiovascularheart > VENTRICULAR SEPTAL DEFECT OMIM:600987 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600987 CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION HP:0001680 Coarctation of aorta IEA IEA OMIM-CS:cardiovascularvascular > COARCTATION OF THE AORTA (IN 1 PATIENT) OMIM:600987 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600987 CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION HP:0002553 Highly arched eyebrow IEA IEA OMIM-CS:headandneckeyes > ARCHED EYEBROWS OMIM:600987 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600987 CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION HP:0000490 Deeply set eye IEA IEA OMIM-CS:headandneckeyes > DEEP-SET EYES OMIM:600987 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600987 CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION HP:0045075 Sparse eyebrow IEA IEA OMIM-CS:headandneckeyes > SPARSE EYEBROWS OMIM:600987 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600987 CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION HP:0000582 Upslanted palpebral fissure IEA IEA OMIM-CS:headandneckeyes > UPSLANTING PALPEBRAL FISSURES OMIM:600987 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600987 CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION HP:0000341 Narrow forehead IEA IEA OMIM-CS:headandneckface > BITEMPORAL NARROWING OMIM:600987 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600987 CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION HP:0009890 High anterior hairline IEA IEA OMIM-CS:headandneckface > HIGH ANTERIOR HAIRLINE OMIM:600987 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600987 CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION HP:0002003 Large forehead IEA IEA OMIM-CS:headandneckface > LARGE FOREHEAD OMIM:600987 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600987 CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION HP:0010804 Tented upper lip vermilion IEA IEA OMIM-CS:headandneckmouth > TENTED UPPER LIP OMIM:600987 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600987 CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION HP:0000729 Autistic behavior IEA IEA OMIM-CS:neurologicbehavioralpsychiatricmanifestations > AUTISM SPECTRUM DISORDER (IN 1 PATIENT) OMIM:600987 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600987 CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION HP:0001249 Intellectual disability IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, MILD TO SEVERE OMIM:600987 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600987 CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > PSYCHOMOTOR RETARDATION OMIM:600987 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600987 CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION HP:0011304 Broad thumb IEA IEA OMIM-CS:skeletalhands > BROAD THUMBS OMIM:600987 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614807 MYOPATHY, CENTRONUCLEAR, 4 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:614807 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615048 SPINAL MUSCULAR ATROPHY, JOKELA TYPE HP:0002936 Distal sensory impairment IEA IEA rare OMIM-CS:neurologicperipheralnervoussystem > DISTAL SENSORY IMPAIRMENT, MILD (IN SOME PATIENTS) OMIM:615048 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613464 RETINITIS PIGMENTOSA 51 HP:0011003 Severe Myopia IEA IEA OMIM-CS:headandneckeyes > HIGH MYOPIA OMIM:613464 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613464 RETINITIS PIGMENTOSA 51 HP:0000608 Macular degeneration IEA IEA OMIM-CS:headandneckeyes > MACULAR DEGENERATION OMIM:613464 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613464 RETINITIS PIGMENTOSA 51 HP:0000662 Nyctalopia IEA IEA OMIM-CS:headandneckeyes > NIGHT BLINDNESS OMIM:613464 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613464 RETINITIS PIGMENTOSA 51 HP:0000613 Photophobia IEA IEA OMIM-CS:headandneckeyes > PHOTOPHOBIA OMIM:613464 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613464 RETINITIS PIGMENTOSA 51 HP:0007663 Reduced visual acuity IEA IEA OMIM-CS:headandneckeyes > REDUCED VISUAL ACUITY OMIM:613464 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:137200 NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE HP:0002936 Distal sensory impairment IEA IEA OMIM-CS:neurologicperipheralnervoussystem > DISTAL SENSORY IMPAIRMENT, MILD (VARIABLE) OMIM:137200 HPO:skoehler 13.07.2017 ............filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614922 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 HP:0001397 Hepatic steatosis IEA IEA OMIM-CS:abdomenliver > STEATOSIS OMIM:614922 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614922 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 HP:0000107 Renal cyst IEA IEA OMIM-CS:genitourinarykidneys > CYSTIC KIDNEYS OMIM:614922 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614922 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 HP:0000089 Renal hypoplasia IEA IEA OMIM-CS:genitourinarykidneys > HYPOPLASTIC KIDNEYS OMIM:614922 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614922 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 HP:0000083 Renal insufficiency IEA IEA OMIM-CS:genitourinarykidneys > RENAL FAILURE OMIM:614922 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614922 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 HP:0003828 Variable expressivity IEA IEA OMIM-CS:miscellaneous > VARIABLE SEVERITY OMIM:614922 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614922 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:614922 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614922 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 HP:0012448 Delayed myelination IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED MYELINATION OMIM:614922 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614922 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:614922 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614922 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 HP:0001250 Seizures IEA IEA OMIM-CS:neurologiccentralnervoussystem > SEIZURES OMIM:614922 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611040 MICROPHTHALMIA, ISOLATED 5 HP:0030823 Scleral thickening IEA IEA OMIM-CS:headandneckeyes > SCLERAL THICKENING OMIM:611040 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:202370 PEROXISOME BIOGENESIS DISORDER 2B HP:0002705 High, narrow palate IEA IEA OMIM-CS:mouth > PALATE HIGH-ARCHED OMIM:202370 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602579 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:602579 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:207950 CHIARI MALFORMATION TYPE II HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:207950 HPO:skoehler 13.07.2017 ..filter this Sun Aug 27 00:00:00 CEST 2017 OMIM:200990 ACROCALLOSAL SYNDROME SCHINZEL ACROCALLOSAL SYNDROME HP:0001641 Abnormality of the pulmonary valve TAS TAS OMIM:200990 HPO:probinson 2017-08-27 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300881 BARATELA-SCOTT SYNDROME HP:0000405 Conductive hearing impairment IEA IEA rare OMIM-CS:headandneckears > CONDUCTIVE HEARING LOSS, MILD BILATERAL (RARE) OMIM:300881 HPO:skoehler 13.07.2017 .......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:311900 TARP SYNDROME HP:0000767 Pectus excavatum IEA IEA rare OMIM-CS:chestribssternumclaviclesandscapulae > PECTUS EXCAVATUM, MILD (RARE) OMIM:311900 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:311900 TARP SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:311900 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616689 DEHYDRATED HEREDITARY STOMATOCYTOSIS 2 HP:0005518 Increased mean corpuscular volume IEA IEA OMIM-CS:hematology > INCREASED MEAN CORPUSCULAR VOLUME (MCV) OMIM:616689 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616689 DEHYDRATED HEREDITARY STOMATOCYTOSIS 2 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:616689 HPO:skoehler 13.07.2017 .........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602782 HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME HP:0002594 Pancreatic hypoplasia IEA IEA rare OMIM-CS:abdomenpancreas > PANCREATIC HYPOPLASIA, MILD (RARE) OMIM:602782 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602782 HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME HP:0025289 Cervical lymphadenopathy IEA IEA OMIM-CS:headandneckneck > CERVICAL LYMPHADENOPATHY OMIM:602782 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:156530 METATROPIC DYSPLASIA HP:0003037 Enlarged joints IEA IEA OMIM-CS:skeletallimbs > PROMINENT JOINTS OMIM:156530 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:157150 MICROSPHEROPHAKIA WITH HERNIA HP:0030961 Microspherophakia IEA IEA OMIM-CS:eyes > MICROSPHEROPHAKIA OMIM:157150 HPO:skoehler 13.07.2017 .... filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601678 BARTTER SYNDROME, TYPE 1, ANTENATAL HP:0000843 Hyperparathyroidism IEA IEA rare OMIM-CS:endocrinefeatures > HYPERPARATHYROIDISM (IN SOME PATIENTS) OMIM:601678 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601678 BARTTER SYNDROME, TYPE 1, ANTENATAL HP:0003072 Hypercalcemia IEA IEA OMIM-CS:laboratoryabnormalities > HYPERCALCEMIA OMIM:601678 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:230740 GAPO SYNDROME HP:0000706 Unerupted tooth IEA IEA OMIM-CS:headandneckteeth > PSEUDOANODONTIA (FAILURE OF TOOTH ERUPTION) OMIM:230740 HPO:skoehler 13.07.2017 ........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615113 MICROPHTHALMIA, ISOLATED 8 HP:0000621 Entropion IEA IEA rare OMIM-CS:headandneckeyes > ENTROPION, BILATERAL (IN SOME PATIENTS) OMIM:615113 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604250 HEMOCHROMATOSIS, TYPE 3 HP:0001638 Cardiomyopathy IEA IEA OMIM-CS:cardiovascularheart > CARDIOMYOPATHY OMIM:604250 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604250 HEMOCHROMATOSIS, TYPE 3 HP:0000141 Amenorrhea IEA IEA OMIM-CS:genitourinaryinternalgenitaliafemale > AMENORRHEA OMIM:604250 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604250 HEMOCHROMATOSIS, TYPE 3 HP:0000802 Impotence IEA IEA OMIM-CS:genitourinaryinternalgenitaliamale > IMPOTENCE OMIM:604250 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604250 HEMOCHROMATOSIS, TYPE 3 HP:0001903 Anemia IEA IEA OMIM-CS:hematology > ANEMIA OMIM:604250 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604250 HEMOCHROMATOSIS, TYPE 3 HP:0001888 Lymphopenia IEA IEA OMIM-CS:hematology > LYMPHOPENIA OMIM:604250 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604250 HEMOCHROMATOSIS, TYPE 3 HP:0001875 Neutropenia IEA IEA OMIM-CS:hematology > NEUTROPENIA OMIM:604250 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604250 HEMOCHROMATOSIS, TYPE 3 HP:0003452 Increased serum iron IEA IEA OMIM-CS:laboratoryabnormalities > INCREASED SERUM IRON OMIM:604250 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604250 HEMOCHROMATOSIS, TYPE 3 HP:0012378 Fatigue IEA IEA OMIM-CS:neurologicbehavioralpsychiatricmanifestations > FATIGUE OMIM:604250 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604250 HEMOCHROMATOSIS, TYPE 3 HP:0001369 Arthritis IEA IEA OMIM-CS:skeletal > ARTHRITIS OMIM:604250 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616198 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:616198 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:603284 CEREBRAL CAVERNOUS MALFORMATIONS 2 HP:0001342 Cerebral hemorrhage IEA IEA OMIM-CS:neurologiccentralnervoussystem > HEMORRHAGIC STROKE OMIM:603284 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:234100 HALLERMANN-STREIFF SYNDROME HP:0030799 Scaphocephaly IEA IEA OMIM-CS:headandneckhead > SCAPHOCEPHALY OMIM:234100 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601390 VAN MALDERGEM SYNDROME 1 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:601390 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616981 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 HP:0000639 Nystagmus IEA IEA rare OMIM-CS:headandneckeyes > NYSTAGMUS (IN SOME PATIENTS) OMIM:616981 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616981 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:616981 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616981 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:616981 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616981 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 HP:0001344 Absent speech IEA IEA OMIM-CS:neurologiccentralnervoussystem > ABSENT SPEECH OMIM:616981 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616981 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 HP:0001272 Cerebellar atrophy IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR ATROPHY OMIM:616981 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616981 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 HP:0002059 Cerebral atrophy IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY OMIM:616981 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616981 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 HP:0001266 Choreoathetosis IEA IEA OMIM-CS:neurologiccentralnervoussystem > CHOREOATHETOSIS OMIM:616981 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616981 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 HP:0002376 Developmental regression IEA IEA OMIM-CS:neurologiccentralnervoussystem > DEVELOPMENTAL REGRESSION OMIM:616981 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616981 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 HP:0200134 Epileptic encephalopathy IEA IEA OMIM-CS:neurologiccentralnervoussystem > EPILEPTIC ENCEPHALOPATHY OMIM:616981 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616981 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > GLOBAL DEVELOPMENTAL DELAY OMIM:616981 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616981 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 HP:0001288 Gait disturbance IEA IEA OMIM-CS:neurologiccentralnervoussystem > IMPAIRED GAIT OMIM:616981 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616981 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 HP:0001249 Intellectual disability IEA IEA OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION OMIM:616981 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616981 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 HP:0001336 Myoclonus IEA IEA OMIM-CS:neurologiccentralnervoussystem > MYOCLONUS OMIM:616981 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616981 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 HP:0002063 Rigidity IEA IEA OMIM-CS:neurologiccentralnervoussystem > RIGIDITY OMIM:616981 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616981 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 HP:0001257 Spasticity IEA IEA OMIM-CS:neurologiccentralnervoussystem > SPASTICITY OMIM:616981 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:150400 TOOTH AGENESIS, SELECTIVE, 4 HP:0010764 Short eyelashes IEA IEA rare OMIM-CS:headandneckeyes > SHORT EYELASHES (IN SOME PATIENTS) OMIM:150400 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:150400 TOOTH AGENESIS, SELECTIVE, 4 HP:0045075 Sparse eyebrow IEA IEA rare OMIM-CS:headandneckeyes > SPARSE EYEBROWS (IN SOME PATIENTS) OMIM:150400 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:150400 TOOTH AGENESIS, SELECTIVE, 4 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:150400 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:150400 TOOTH AGENESIS, SELECTIVE, 4 HP:0008070 Sparse hair IEA IEA rare OMIM-CS:skinnailshairhair > SPARSE HAIR (IN SOME PATIENTS) OMIM:150400 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:150400 TOOTH AGENESIS, SELECTIVE, 4 HP:0000958 Dry skin IEA IEA rare OMIM-CS:skinnailshairskin > DRY SKIN (IN SOME PATIENTS) OMIM:150400 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616943 TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE HP:0004322 Short stature IEA IEA OMIM-CS:growthheight > SHORT STATURE OMIM:616943 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616943 TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE HP:0000482 Microcornea IEA IEA rare OMIM-CS:headandneckeyes > MICROCORNEA (IN ONE PATIENT) OMIM:616943 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616943 TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE HP:0000639 Nystagmus IEA IEA rare OMIM-CS:headandneckeyes > NYSTAGMUS (IN ONE PATIENT) OMIM:616943 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616943 TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE HP:0000252 Microcephaly IEA IEA OMIM-CS:headandneckhead > MICROCEPHALY OMIM:616943 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616943 TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE HP:0002342 Intellectual disability, moderate IEA IEA OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION, MODERATE OMIM:616943 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616943 TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE HP:0001270 Motor delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > MOTOR DELAY OMIM:616943 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616943 TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE HP:0002136 Broad-based gait IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > WIDE-BASED GAIT (IN ONE PATIENT) OMIM:616943 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616943 TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE HP:0002750 Delayed skeletal maturation IEA IEA rare OMIM-CS:skeletal > DELAYED BONE AGE (IN ONE PATIENT) OMIM:616943 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616943 TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE HP:0001761 Pes cavus IEA IEA rare OMIM-CS:skeletalfeet > PES CAVUS, BILATERAL (IN ONE PATIENT) OMIM:616943 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616943 TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE HP:0002673 Coxa valga IEA IEA rare OMIM-CS:skeletalpelvis > COXA VALGA, BILATERAL (IN ONE PATIENT) OMIM:616943 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT 2 HP:0000572 Visual loss IEA IEA OMIM-CS:headandneckeyes > VISION LOSS, SEVERE, BEGINNING IN CHILDHOOD (12 OF 62 PATIENTS) OMIM:166600 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601086 LATERALITY DEFECTS, AUTOSOMAL DOMINANT HP:0030853 Heterotaxy IEA IEA OMIM-CS:growth > HETEROTAXY OMIM:601086 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615438 INFANTILE LIVER FAILURE SYNDROME 1 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:615438 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS HP:0000013 Hypoplasia of the uterus IEA IEA OMIM-CS:genitourinaryinternalgenitaliafemale > SMALL UTERUS OMIM:110100 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617321 YAO SYNDROME HP:0001824 Weight loss IEA IEA rare OMIM-CS:growthweight > WEIGHT LOSS (IN SOME PATIENTS) OMIM:617321 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617321 YAO SYNDROME HP:0001097 Keratoconjunctivitis sicca IEA IEA OMIM-CS:headandneckeyes > DRY EYES OMIM:617321 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617321 YAO SYNDROME HP:0000217 Xerostomia IEA IEA OMIM-CS:headandneckmouth > DRY MOUTH OMIM:617321 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617321 YAO SYNDROME HP:0000554 Uveitis IEA IEA NOT NOT OMIM-CS:miscellaneous > PATIENTS DO NOT EXHIBIT UVEITIS OMIM:617321 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601675 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE HP:0002028 Chronic diarrhea IEA IEA OMIM-CS:abdomengastrointestinal > CHRONIC DIARRHEA OMIM:601675 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601675 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE HP:0002024 Malabsorption IEA IEA OMIM-CS:abdomengastrointestinal > MALABSORPTION OMIM:601675 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601675 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE HP:0000411 Protruding ear IEA IEA rare OMIM-CS:headandneckears > PROTRUDING EARS (IN SOME PATIENTS) OMIM:601675 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601675 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE HP:0001097 Keratoconjunctivitis sicca IEA IEA rare OMIM-CS:headandneckeyes > DRY EYE SYNDROME (IN SOME PATIENTS) OMIM:601675 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601675 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE HP:0000482 Microcornea IEA IEA rare OMIM-CS:headandneckeyes > MICROCORNEA (IN SOME PATIENTS) OMIM:601675 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601675 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE HP:0000568 Microphthalmia IEA IEA rare OMIM-CS:headandneckeyes > MICROPHTHALMIA (RARE) OMIM:601675 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601675 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE HP:0000639 Nystagmus IEA IEA OMIM-CS:headandneckeyes > NYSTAGMUS OMIM:601675 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601675 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE HP:0000613 Photophobia IEA IEA OMIM-CS:headandneckeyes > PHOTOPHOBIA OMIM:601675 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601675 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE HP:0000486 Strabismus IEA IEA OMIM-CS:headandneckeyes > STRABISMUS OMIM:601675 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601675 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE HP:0000278 Retrognathia IEA IEA OMIM-CS:headandneckface > RECEDING CHIN OMIM:601675 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601675 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE HP:0002671 Basal cell carcinoma IEA IEA OMIM-CS:neoplasia > BASAL CELL CARCINOMA OMIM:601675 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601675 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE HP:0002860 Squamous cell carcinoma IEA IEA OMIM-CS:neoplasia > SQUAMOUS CELL CARCINOMA OMIM:601675 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601675 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE HP:0000750 Delayed speech and language development IEA IEA OMIM-CS:neurologiccentralnervoussystem > SPEECH DELAY OMIM:601675 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601675 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE HP:0008070 Sparse hair IEA IEA OMIM-CS:skinnailshairhair > SPARSE HAIR OMIM:601675 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601675 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE HP:0002213 Fine hair IEA IEA OMIM-CS:skinnailshairhair > THIN HAIR OMIM:601675 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601675 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE HP:0009886 Trichorrhexis nodosa IEA IEA OMIM-CS:skinnailshairhair > TRICHORRHEXIS NODOSA OMIM:601675 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601675 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE HP:0008404 Nail dystrophy IEA IEA OMIM-CS:skinnailshairnails > DYSTROPHIC NAILS OMIM:601675 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601675 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE HP:0001792 Small nail IEA IEA OMIM-CS:skinnailshairnails > HYPOPLASTIC NAILS OMIM:601675 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601675 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE HP:0000958 Dry skin IEA IEA OMIM-CS:skinnailshairskin > DRY SKIN OMIM:601675 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601675 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE HP:0001480 Freckling IEA IEA OMIM-CS:skinnailshairskin > FRECKLING OMIM:601675 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617478 STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME HP:0001631 Atrial septal defect IEA IEA OMIM-CS:cardiovascularheart > ATRIAL SEPTAL DEFECT OMIM:617478 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617478 STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME HP:0001636 Tetralogy of Fallot IEA IEA OMIM-CS:cardiovascularheart > TETRALOGY OF FALLOT OMIM:617478 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617478 STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME HP:0001660 Truncus arteriosus IEA IEA OMIM-CS:cardiovascularheart > TRUNCUS ARTERIOSUS OMIM:617478 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617478 STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME HP:0001629 Ventricular septal defect IEA IEA OMIM-CS:cardiovascularheart > VENTRICULAR SEPTAL DEFECT OMIM:617478 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617478 STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME HP:0011611 Interrupted aortic arch IEA IEA OMIM-CS:cardiovascularvascular > INTERRUPTED AORTIC ARCH OMIM:617478 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617478 STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME HP:0010773 Partial anomalous pulmonary venous return IEA IEA OMIM-CS:cardiovascularvascular > PARTIAL ANOMALOUS PULMONARY VENOUS RETURN OMIM:617478 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617478 STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME HP:0005301 Persistent left superior vena cava IEA IEA OMIM-CS:cardiovascularvascular > PERSISTENT LEFT SUPERIOR VENA CAVA OMIM:617478 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617478 STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME HP:0012020 Right aortic arch IEA IEA OMIM-CS:cardiovascularvascular > RIGHT AORTIC ARCH OMIM:617478 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617478 STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME HP:0000107 Renal cyst IEA IEA OMIM-CS:genitourinarykidneys > RENAL CYSTS OMIM:617478 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617478 STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME HP:0000083 Renal insufficiency IEA IEA OMIM-CS:genitourinarykidneys > RENAL FAILURE OMIM:617478 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617478 STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME HP:0000252 Microcephaly IEA IEA OMIM-CS:headandneckhead > MICROCEPHALY (IN 1 PATIENT) OMIM:617478 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617478 STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617478 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617478 STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME HP:0007430 Generalized edema IEA IEA OMIM-CS:musclesofttissue > GENERALIZED EDEMA OMIM:617478 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617478 STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME HP:0001338 Partial agenesis of the corpus callosum IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > PARTIAL AGENESIS OF CORPUS CALLOSUM (IN SOME PATIENTS) OMIM:617478 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:135400 HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA HP:0012810 Wide nasal base IEA IEA rare OMIM-CS:headandnecknose > BROAD BASE OF NOSE (IN SOME PATIENTS) OMIM:135400 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614381 LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM HP:0004322 Short stature IEA IEA OMIM-CS:growthheight > SHORT STATURE OMIM:614381 HPO:skoehler 13.07.2017 ..................filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:153480 BANNAYAN-RILEY-RUVALCABA SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:153480 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:609952 DEAFNESS, AUTOSOMAL RECESSIVE 55 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:609952 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615597 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:615597 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615578 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:615578 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:304110 CRANIOFRONTONASAL SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:304110 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616127 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 HP:0003677 Slow progression IEA IEA OMIM-CS:miscellaneous > SLOWLY PROGRESSIVE DISORDER OMIM:616127 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616127 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:616127 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616127 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 HP:0001337 Tremor IEA IEA OMIM-CS:neurologiccentralnervoussystem > TREMOR OMIM:616127 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616286 LETHAL CONGENITAL CONTRACTURE SYNDROME 7 HP:0200136 Oral-pharyngeal dysphagia IEA IEA OMIM-CS:abdomengastrointestinal > DIFFICULTY SWALLOWING OMIM:616286 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616286 LETHAL CONGENITAL CONTRACTURE SYNDROME 7 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologicperipheralnervoussystem > HYPOTONIA OMIM:616286 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616045 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:616045 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602723 PSORIASIS 2 HP:0025092 Epidermal acanthosis IEA IEA OMIM-CS:skinnailshairskinhistology > EPIDERMAL ACANTHOSIS OMIM:602723 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616539 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA (PATIENT B) OMIM:616539 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616539 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 HP:0012444 Brain atrophy IEA IEA OMIM-CS:neurologiccentralnervoussystem > BRAIN ATROPHY, MILD (PATIENT B) OMIM:616539 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:261750 GLYCOGEN STORAGE DISEASE IXB HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:261750 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617337 ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE HP:0000322 Short philtrum IEA IEA rare OMIM-CS:headandneckface > SHORT PHILTRUM (IN SOME PATIENTS) OMIM:617337 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617337 ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE HP:0011120 Concave nasal ridge IEA IEA OMIM-CS:headandnecknose > SADDLE NOSE OMIM:617337 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617337 ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE HP:0000695 Natal tooth IEA IEA rare OMIM-CS:headandneckteeth > NATAL TEETH (RARE) OMIM:617337 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617337 ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:617337 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617337 ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE HP:0008404 Nail dystrophy IEA IEA OMIM-CS:skinnailshairnails > NAIL DYSTROPHY OMIM:617337 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617337 ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE HP:0000966 Hypohidrosis IEA IEA OMIM-CS:skinnailshairskin > DECREASED SWEATING OMIM:617337 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617337 ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE HP:0040154 Acne inversa IEA IEA OMIM-CS:skinnailshairskin > HIDRADENITIS SUPPURATIVA OMIM:617337 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617337 ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE HP:0007387 Hypoplastic sweat glands IEA IEA OMIM-CS:skinnailshairskinhistology > HYPOPLASTIC SWEAT GLANDS OMIM:617337 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612354 INFLAMMATORY BOWEL DISEASE 21 HP:0100279 Ulcerative colitis IEA IEA OMIM-CS:abdomengastrointestinal > ULCERATIVE COLITIS OMIM:612354 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612354 INFLAMMATORY BOWEL DISEASE 21 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:612354 HPO:skoehler 13.07.2017 .... .............filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:103780 ALCOHOL DEPENDENCE HP:0030955 Alcoholism IEA IEA OMIM-CS:neuro > ALCOHOLISM OMIM:103780 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616733 COENZYME Q10 DEFICIENCY, PRIMARY, 8 HP:0001511 Intrauterine growth retardation IEA IEA OMIM-CS:growthother > INTRAUTERINE GROWTH RETARDATION OMIM:616733 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616733 COENZYME Q10 DEFICIENCY, PRIMARY, 8 HP:0008897 Postnatal growth retardation IEA IEA OMIM-CS:growthother > POSTNATAL GROWTH RETARDATION OMIM:616733 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616733 COENZYME Q10 DEFICIENCY, PRIMARY, 8 HP:0000505 Visual impairment IEA IEA OMIM-CS:headandneckeyes > VISUAL IMPAIRMENT OMIM:616733 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616733 COENZYME Q10 DEFICIENCY, PRIMARY, 8 HP:0003577 Congenital onset IEA IEA OMIM-CS:miscellaneous > ONSET AT BIRTH OMIM:616733 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616733 COENZYME Q10 DEFICIENCY, PRIMARY, 8 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:616733 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616733 COENZYME Q10 DEFICIENCY, PRIMARY, 8 HP:0001270 Motor delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED MOTOR DEVELOPMENT OMIM:616733 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616733 COENZYME Q10 DEFICIENCY, PRIMARY, 8 HP:0001562 Oligohydramnios IEA IEA OMIM-CS:prenatalmanifestationsamnioticfluid > OLIGOHYDRAMNIOS OMIM:616733 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:239500 HYPERPROLINEMIA, TYPE I HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:239500 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:164310 OCULOPHARYNGODISTAL MYOPATHY HP:0002091 Restrictive ventilatory defect IEA IEA OMIM-CS:respiratory > RESTRICTIVE VENTILATORY DEFECT OMIM:164310 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:210210 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY HP:0011968 Feeding difficulties IEA IEA OMIM-CS:abdomengastrointestinal > FEEDING DIFFICULTIES OMIM:210210 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:210210 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY HP:0002013 Vomiting IEA IEA OMIM-CS:abdomengastrointestinal > VOMITING OMIM:210210 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:210210 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY HP:0001508 Failure to thrive IEA IEA OMIM-CS:growthother > FAILURE TO THRIVE OMIM:210210 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:210210 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY HP:0008281 Acute hyperammonemia IEA IEA OMIM-CS:laboratoryabnormalities > HYPERAMMONEMIA, ACUTE OMIM:210210 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:210210 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY HP:0001942 Metabolic acidosis IEA IEA OMIM-CS:metabolicfeatures > METABOLIC ACIDOSIS, EPISODIC OMIM:210210 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:210210 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY HP:0001425 Heterogeneous IEA IEA OMIM-CS:miscellaneous > GENETIC HETEROGENEITY (SEE MCC1 DEFICIENCY OMIM:210210 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:210210 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY HP:0003812 Phenotypic variability IEA IEA OMIM-CS:miscellaneous > HIGHLY VARIABLE PHENOTYPE OMIM:210210 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:210210 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:210210 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:210210 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY HP:0001259 Coma IEA IEA OMIM-CS:neurologiccentralnervoussystem > COMA OMIM:210210 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:210210 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DEVELOPMENTAL DELAY OMIM:210210 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:210210 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY HP:0001347 Hyperreflexia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPERREFLEXIA OMIM:210210 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:210210 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:210210 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:210210 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY HP:0001254 Lethargy IEA IEA OMIM-CS:neurologiccentralnervoussystem > LETHARGY OMIM:210210 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:210210 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY HP:0001249 Intellectual disability IEA IEA OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION OMIM:210210 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:210210 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY HP:0002179 Opisthotonus IEA IEA OMIM-CS:neurologiccentralnervoussystem > OPISTHOTONUS OMIM:210210 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:210210 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > PSYCHOMOTOR RETARDATION OMIM:210210 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:210210 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY HP:0001250 Seizures IEA IEA OMIM-CS:neurologiccentralnervoussystem > SEIZURES OMIM:210210 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615284 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 HP:0000762 Decreased nerve conduction velocity IEA IEA OMIM-CS:neurologicperipheralnervoussystem > DECREASED NERVE CONDUCTION VELOCITIES OMIM:615284 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612460 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:612460 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614407 MICROCEPHALY, CEREBELLAR HYPOPLASIA, AND CARDIAC CONDUCTION DEFECT SYNDROME HP:0000253 Progressive microcephaly IEA IEA OMIM-CS:headandneckhead > MICROCEPHALY, PROGRESSIVE, SEVERE (-8 TO -11 SD) OMIM:614407 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614407 MICROCEPHALY, CEREBELLAR HYPOPLASIA, AND CARDIAC CONDUCTION DEFECT SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:614407 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614558 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:614558 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600348 BAND HETEROTOPIA HP:0000256 Macrocephaly IEA IEA OMIM-CS:headandneckhead > MACROCEPHALY (+2.5 SD) OMIM:600348 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600348 BAND HETEROTOPIA HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:600348 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600348 BAND HETEROTOPIA HP:0000708 Behavioral abnormality IEA IEA OMIM-CS:neurologicbehavioralpsychiatricmanifestations > BEHAVIORAL PROBLEMS OMIM:600348 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600348 BAND HETEROTOPIA HP:0001274 Agenesis of corpus callosum IEA IEA OMIM-CS:neurologiccentralnervoussystem > AGENESIS OF THE CORPUS CALLOSUM OMIM:600348 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600348 BAND HETEROTOPIA HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:600348 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600348 BAND HETEROTOPIA HP:0010864 Intellectual disability, severe IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, SEVERE OMIM:600348 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600348 BAND HETEROTOPIA HP:0002126 Polymicrogyria IEA IEA OMIM-CS:neurologiccentralnervoussystem > POLYMICROGYRIA OMIM:600348 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600348 BAND HETEROTOPIA HP:0002360 Sleep disturbance IEA IEA OMIM-CS:neurologiccentralnervoussystem > SLEEP DISTURBANCES OMIM:600348 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600348 BAND HETEROTOPIA HP:0001257 Spasticity IEA IEA OMIM-CS:neurologiccentralnervoussystem > SPASTICITY OMIM:600348 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:203700 MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:203700 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:203700 MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:203700 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:248800 MARINESCO-SJOGREN SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:248800 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613454 RETT SYNDROME, CONGENITAL VARIANT HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:613454 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614702 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:614702 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616649 SPHEROCYTOSIS, TYPE 2 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:616649 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617272 GLAUCOMA 3, PRIMARY CONGENITAL, E HP:0000485 Megalocornea IEA IEA OMIM-CS:headandneckeyes > INCREASED CORNEAL DIAMETER (GREATER THAN 10 MM) OMIM:617272 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617272 GLAUCOMA 3, PRIMARY CONGENITAL, E HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:617272 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616367 MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA HP:0000211 Trismus IEA IEA OMIM-CS:headandneckface > LIMITED JAW MOBILITY OMIM:616367 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604273 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:604273 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:186580 BLAU SYNDROME HP:0025230 Tendonitis IEA IEA OMIM-CS:skeletal > TENDONITIS OMIM:186580 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613152 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:613152 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615434 RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS HP:0007787 Posterior subcapsular cataract IEA IEA rare OMIM-CS:headandneckeyes > POSTERIOR SUBCAPSULAR CATARACTS, MILD (RARE) OMIM:615434 HPO:skoehler 13.07.2017 .filter this Sun May 28 00:00:00 CEST 2017 OMIM:610828 HOLOPROSENCEPHALY 7 HP:0001250 Seizures TAS TAS MIM:610828 HPO:probinson 2017-05-28 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610828 HOLOPROSENCEPHALY 7 HP:0011800 Midface retrusion IEA IEA OMIM-CS:headandneckface > MIDFACE HYPOPLASIA OMIM:610828 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610828 HOLOPROSENCEPHALY 7 HP:0003829 Incomplete penetrance IEA IEA OMIM-CS:miscellaneous > INCOMPLETE PENETRANCE OMIM:610828 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610828 HOLOPROSENCEPHALY 7 HP:0001250 Seizures IEA IEA OMIM-CS:neurologiccentralnervoussystem > SEIZURES OMIM:610828 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617123 RETINITIS PIGMENTOSA 76 HP:0011505 Cystoid macular edema IEA IEA rare OMIM-CS:headandneckeyes > CYSTOID MACULAR EDEMA (IN SOME PATIENTS) OMIM:617123 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617123 RETINITIS PIGMENTOSA 76 HP:0000662 Nyctalopia IEA IEA OMIM-CS:headandneckeyes > NYCTALOPIA OMIM:617123 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617123 RETINITIS PIGMENTOSA 76 HP:0007663 Reduced visual acuity IEA IEA OMIM-CS:headandneckeyes > REDUCED VISUAL ACUITY OMIM:617123 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617123 RETINITIS PIGMENTOSA 76 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617123 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602483 AURICULOCONDYLAR SYNDROME 1 HP:0025267 Snoring IEA IEA OMIM-CS:respiratory > SNORING OMIM:602483 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:269880 SHORT SYNDROME HP:0011800 Midface retrusion IEA IEA OMIM-CS:headandneckface > MIDFACE HYPOPLASIA OMIM:269880 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:269880 SHORT SYNDROME HP:0002714 Downturned corners of mouth IEA IEA OMIM-CS:headandneckmouth > DOWNTURNED CORNERS OF THE MOUTH OMIM:269880 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615802 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 HP:0004322 Short stature IEA IEA OMIM-CS:growthheight > SHORT STATURE OMIM:615802 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615802 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 HP:0000512 Abnormal electroretinogram IEA IEA OMIM-CS:headandneckeyes > ABNORMAL ELECTRORETINOGRAM (1 FAMILY) OMIM:615802 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615802 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 HP:0100704 Cortical visual impairment IEA IEA rare OMIM-CS:headandneckeyes > CORTICAL VISUAL IMPAIRMENT (IN SOME PATIENTS) OMIM:615802 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615802 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 HP:0000556 Retinal dystrophy IEA IEA OMIM-CS:headandneckeyes > RETINAL DYSTROPHY (1 FAMILY) OMIM:615802 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615802 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 HP:0000252 Microcephaly IEA IEA OMIM-CS:headandneckhead > SMALL HEAD OMIM:615802 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615802 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 HP:0000154 Wide mouth IEA IEA OMIM-CS:headandneckmouth > LARGE MOUTH OMIM:615802 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615802 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 HP:0000470 Short neck IEA IEA OMIM-CS:headandneckneck > SHORT NECK OMIM:615802 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615802 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 HP:0000164 Abnormality of the dentition IEA IEA OMIM-CS:headandneckteeth > ABNORMAL TEETH OMIM:615802 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615802 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 HP:0001321 Cerebellar hypoplasia IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR HYPOPLASIA (IN SOME PATIENTS) OMIM:615802 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615802 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 HP:0012448 Delayed myelination IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > DELAYED MYELINATION (IN SOME PATIENTS) OMIM:615802 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615802 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 HP:0001276 Hypertonia IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > HYPERTONIA (IN SOME PATIENTS) OMIM:615802 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615802 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 HP:0001257 Spasticity IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > SPASTICITY (IN SOME PATIENTS) OMIM:615802 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615802 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 HP:0002079 Hypoplasia of the corpus callosum IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > THIN CORPUS CALLOSUM (IN SOME PATIENTS) OMIM:615802 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:606893 VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS HP:0001537 Umbilical hernia IEA IEA OMIM-CS:abdomengastrointestinal > UMBILICAL HERNIA OMIM:606893 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:606893 VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS HP:0000520 Proptosis IEA IEA OMIM-CS:headandneckeyes > EXOPHTHALMOS OMIM:606893 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:606893 VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS HP:0000572 Visual loss IEA IEA OMIM-CS:headandneckeyes > VISION LOSS OMIM:606893 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:606893 VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS HP:0000225 Gingival bleeding IEA IEA OMIM-CS:headandneckmouth > GINGIVAL BLEEDING OMIM:606893 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:606893 VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:606893 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:606893 VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS HP:0003155 Elevated alkaline phosphatase IEA IEA OMIM-CS:laboratoryabnormalities > ELEVATED ALKALINE PHOSPHATASE OMIM:606893 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:606893 VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS HP:0002516 Increased intracranial pressure IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > INCREASED INTRACRANIAL PRESSURE (IN SOME PATIENTS) OMIM:606893 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614959 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:614959 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614959 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:614959 HPO:skoehler 13.07.2017 ...filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001233 2-3 finger syndactyly IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0002101 Abnormal lung lobation TAS TAS OMIM:312870 HPO:probinson 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0005616 Accelerated skeletal maturation IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001274 Agenesis of corpus callosum IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0011675 Arrhythmia IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0003517 Birth length greater than 97th percentile IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001769 Broad foot TAS TAS OMIM:312870 HPO:probinson 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001169 Broad palm TAS TAS OMIM:312870 HPO:probinson 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000216 Broad secondary alveolar ridge IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0011304 Broad thumb IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001837 Broad toe IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001638 Cardiomyopathy IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001320 Cerebellar vermis hypoplasia IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000891 Cervical ribs IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000175 Cleft palate IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000280 Coarse facial features IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000776 Congenital diaphragmatic hernia IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000028 Cryptorchidism IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000689 Dental malocclusion IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0005280 Depressed nasal bridge TAS TAS OMIM:312870 HPO:skoehler 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001540 Diastasis recti IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000494 Downslanted palpebral fissures IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0005580 Duplication of renal pelvis IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000105 Enlarged kidneys IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000286 Epicanthus IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0002869 Flared iliac wings IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000365 Hearing impairment IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0002240 Hepatomegaly IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000238 Hydrocephalus IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000316 Hypertelorism IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000047 Hypospadias IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000023 Inguinal hernia IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0002566 Intestinal malrotation IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000256 Macrocephaly IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000158 Macroglossia IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0002245 Meckel diverticulum IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001252 Muscular hypotonia IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0008803 Narrow sacroiliac notch TAS TAS OMIM:312870 HPO:probinson 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0008815 Narrow sacroiliac notches in infancy IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0002667 Nephroblastoma (Wilms tumor) IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0004510 Pancreatic islet-cell hyperplasia IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001643 Patent ductus arteriosus IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000767 Pectus excavatum IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001748 Polysplenia IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001162 Postaxial hand polydactyly IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0004467 Preauricular pit IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000384 Preauricular skin tag IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001642 Pulmonic stenosis IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000107 Renal cyst IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0002650 Scoliosis IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0009882 Short distal phalanx of finger IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001773 Short foot TAS TAS OMIM:312870 HPO:probinson 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0003196 Short nose IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0004279 Short palm TAS TAS OMIM:312870 HPO:probinson 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0008416 Six lumbar vertebrae IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001792 Small nail IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001744 Splenomegaly IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0009101 Submucous cleft lip IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0002558 Supernumerary nipple IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001762 Talipes equinovarus IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001669 Transposition of the great arteries IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0006176 Two carpal ossification centers present at birth IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001537 Umbilical hernia IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000427 Upturned nose IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001629 Ventricular septal defect IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0003422 Vertebral segmentation defect IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000154 Wide mouth IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000431 Wide nasal bridge TAS TAS OMIM:312870 HPO:probinson 2017-05-25 filter this Thu May 25 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001419 X-linked recessive inheritance IEA IEA OMIM:312870 HPO 2017-05-25 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001540 Diastasis recti IEA IEA OMIM-CS:abdomenexternalfeatures > DIASTASIS RECTI OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001537 Umbilical hernia IEA IEA OMIM-CS:abdomenexternalfeatures > UMBILICAL HERNIAS OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0002566 Intestinal malrotation IEA IEA OMIM-CS:abdomengastrointestinal > INTESTINAL MALROTATION OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0002245 Meckel diverticulum IEA IEA OMIM-CS:abdomengastrointestinal > MECKEL DIVERTICULUM OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0002240 Hepatomegaly IEA IEA OMIM-CS:abdomenliver > HEPATOMEGALY OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0004510 Pancreatic islet-cell hyperplasia IEA IEA OMIM-CS:abdomenpancreas > HYPERPLASTIC ISLETS OF LANGERHANS OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001748 Polysplenia IEA IEA OMIM-CS:abdomenspleen > POLYSPLENIA OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001744 Splenomegaly IEA IEA OMIM-CS:abdomenspleen > SPLENOMEGALY OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0011675 Arrhythmia IEA IEA OMIM-CS:cardiovascularheart > CARDIAC CONDUCTION DEFECTS OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001638 Cardiomyopathy IEA IEA OMIM-CS:cardiovascularheart > CARDIOMYOPATHY OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001642 Pulmonic stenosis IEA IEA OMIM-CS:cardiovascularheart > PULMONIC STENOSIS OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001629 Ventricular septal defect IEA IEA OMIM-CS:cardiovascularheart > VENTRICULAR SEPTAL DEFECT OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001643 Patent ductus arteriosus IEA IEA OMIM-CS:cardiovascularvascular > PATENT DUCTUS ARTERIOSUS OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001669 Transposition of the great arteries IEA IEA OMIM-CS:cardiovascularvascular > TRANSPOSITION OF GREAT VESSELS OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0002558 Supernumerary nipple IEA IEA OMIM-CS:chestbreasts > SUPERNUMERARY NIPPLES OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000776 Congenital diaphragmatic hernia IEA IEA OMIM-CS:chestdiaphragm > DIAPHRAGMATIC HERNIA OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000891 Cervical ribs IEA IEA OMIM-CS:chestribssternumclaviclesandscapulae > CERVICAL RIBS OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000767 Pectus excavatum IEA IEA OMIM-CS:chestribssternumclaviclesandscapulae > PECTUS EXCAVATUM OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000047 Hypospadias IEA IEA OMIM-CS:genitourinaryexternalgenitaliamale > HYPOSPADIAS OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000023 Inguinal hernia IEA IEA OMIM-CS:genitourinaryexternalgenitaliamale > INGUINAL HERNIA OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000028 Cryptorchidism IEA IEA OMIM-CS:genitourinaryinternalgenitaliamale > CRYPTORCHIDISM OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000107 Renal cyst IEA IEA OMIM-CS:genitourinarykidneys > CYSTIC KIDNEYS OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0005580 Duplication of renal pelvis IEA IEA OMIM-CS:genitourinarykidneys > DUPLICATION OF RENAL PELVIS OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000105 Enlarged kidney IEA IEA OMIM-CS:genitourinarykidneys > LARGE KIDNEYS OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0003517 Birth length greater than 97th percentile IEA IEA OMIM-CS:growthheight > BIRTH LENGTH GREATER THAN 97TH PERCENTILE OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000098 Tall stature IEA IEA OMIM-CS:growthheight > TALL STATURE OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000365 Hearing impairment IEA IEA OMIM-CS:headandneckears > HEARING LOSS OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0004467 Preauricular pit IEA IEA OMIM-CS:headandneckears > PREAURICULAR PITS OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000384 Preauricular skin tag IEA IEA OMIM-CS:headandneckears > PREAURICULAR TAGS OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000494 Downslanted palpebral fissures IEA IEA OMIM-CS:headandneckeyes > DOWNSLANTING PALPEBRAL FISSURES OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000286 Epicanthus IEA IEA OMIM-CS:headandneckeyes > EPICANTHAL FOLDS OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000316 Hypertelorism IEA IEA OMIM-CS:headandneckeyes > HYPERTELORISM OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000280 Coarse facial features IEA IEA OMIM-CS:headandneckface > COARSE FACIES OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000256 Macrocephaly IEA IEA OMIM-CS:headandneckhead > MACROCEPHALY OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000216 Broad secondary alveolar ridge IEA IEA OMIM-CS:headandneckmouth > BROAD SECONDARY ALVEOLAR RIDGE OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000175 Cleft palate IEA IEA OMIM-CS:headandneckmouth > CLEFT PALATE OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000158 Macroglossia IEA IEA OMIM-CS:headandneckmouth > MACROGLOSSIA OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000154 Wide mouth IEA IEA OMIM-CS:headandneckmouth > MACROSTOMIA OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0009101 Submucous cleft lip IEA IEA OMIM-CS:headandneckmouth > SUBMUCOUS CLEFT LIP OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000431 Wide nasal bridge IEA IEA OMIM-CS:headandnecknose > BROAD FLAT NASAL BRIDGE OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0003196 Short nose IEA IEA OMIM-CS:headandnecknose > SHORT NOSE OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000463 Anteverted nares IEA IEA OMIM-CS:headandnecknose > UPTURNED NOSE OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000689 Dental malocclusion IEA IEA OMIM-CS:headandneckteeth > DENTAL MALOCCLUSION OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001419 X-linked recessive inheritance IEA IEA OMIM-CS:inheritance > X-LINKED RECESSIVE OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0002898 Embryonal neoplasm IEA IEA OMIM-CS:neoplasia > EMBRYONAL TUMORS OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0002667 Nephroblastoma IEA IEA OMIM-CS:neoplasia > WILMS TUMOR OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001274 Agenesis of corpus callosum IEA IEA OMIM-CS:neurologiccentralnervoussystem > AGENESIS OF CORPUS CALLOSUM OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001320 Cerebellar vermis hypoplasia IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR VERMIS HYPOPLASIA OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0000238 Hydrocephalus IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYDROCEPHALUS OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0002101 Abnormal lung lobation IEA IEA OMIM-CS:respiratorylung > LUNG SEGMENTATION DEFECTS OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0005616 Accelerated skeletal maturation IEA IEA OMIM-CS:skeletal > ADVANCED BONE AGE OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001762 Talipes equinovarus IEA IEA OMIM-CS:skeletalfeet > CLUBFOOT OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0011304 Broad thumb IEA IEA OMIM-CS:skeletalhands > BROAD THUMBS OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0009882 Short distal phalanx of finger IEA IEA OMIM-CS:skeletalhands > DISTAL PHALANGEAL HYPOPLASIA OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0100259 Postaxial polydactyly IEA IEA OMIM-CS:skeletalhands > POSTAXIAL POLYDACTYLY OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0001233 2-3 finger syndactyly IEA IEA OMIM-CS:skeletalhands > SYNDACTYLY 2ND-3RD FINGERS OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0006176 Two carpal ossification centers present at birth IEA IEA OMIM-CS:skeletalhands > TWO CARPAL OSSIFICATION CENTERS PRESENT AT BIRTH OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0002869 Flared iliac wings IEA IEA OMIM-CS:skeletalpelvis > FLARED ILIAC WING OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0002650 Scoliosis IEA IEA OMIM-CS:skeletalspine > SCOLIOSIS OMIM:312870 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 HP:0008416 Six lumbar vertebrae IEA IEA OMIM-CS:skeletalspine > SIX LUMBAR VERTEBRAE OMIM:312870 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617433 RETINITIS PIGMENTOSA 78 HP:0011505 Cystoid macular edema IEA IEA OMIM-CS:headandneckeyes > CYSTOID MACULAR EDEMA OMIM:617433 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617433 RETINITIS PIGMENTOSA 78 HP:0000543 Optic disc pallor IEA IEA OMIM-CS:headandneckeyes > OPTIC DISC PALLOR OMIM:617433 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617433 RETINITIS PIGMENTOSA 78 HP:0030786 Photopsia IEA IEA OMIM-CS:headandneckeyes > PHOTOPSIA OMIM:617433 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617433 RETINITIS PIGMENTOSA 78 HP:0007663 Reduced visual acuity IEA IEA OMIM-CS:headandneckeyes > REDUCED VISUAL ACUITY OMIM:617433 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617433 RETINITIS PIGMENTOSA 78 HP:0001123 Visual field defect IEA IEA OMIM-CS:headandneckeyes > VISUAL FIELD DEFECTS OMIM:617433 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617433 RETINITIS PIGMENTOSA 78 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617433 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:607944 SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION HP:0001256 Intellectual disability, mild IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > MILD MENTAL RETARDATION (IN SOME PATIENTS) OMIM:607944 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:607944 SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION HP:0002478 Progressive spastic quadriplegia IEA IEA OMIM-CS:neurologiccentralnervoussystem > PROGRESSIVE SPASTIC QUADRIPARESIS OMIM:607944 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:607944 SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION HP:0001264 Spastic diplegia IEA IEA OMIM-CS:neurologiccentralnervoussystem > SPASTIC DIPLEGIA OMIM:607944 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:607944 SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION HP:0001257 Spasticity IEA IEA OMIM-CS:neurologiccentralnervoussystem > SPASTICITY OMIM:607944 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:607944 SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION HP:0002938 Lumbar hyperlordosis IEA IEA OMIM-CS:skeletalspine > INCREASED LUMBAR LORDOSIS OMIM:607944 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:607944 SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION HP:0002751 Kyphoscoliosis IEA IEA OMIM-CS:skeletalspine > KYPHOSCOLIOSIS OMIM:607944 HPO:skoehler 13.07.2017 ....filter this Mon May 29 00:00:00 CEST 2017 OMIM:155310 MEGADUODENUM AND/OR MEGACYSTISPSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL HP:0004389 Intestinal pseudo-obstruction TAS TAS Recurrent OMIM:155310 HPO:probinson 2017-05-29 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614643 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:614643 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614643 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:614643 HPO:skoehler 13.07.2017 . ..........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0002025 Anal stenosis IEA IEA OMIM-CS:abdomengastrointestinal > ANAL STENOSIS OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0100867 Duodenal stenosis IEA IEA OMIM-CS:abdomengastrointestinal > DUODENAL STENOSIS OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0002023 Anal atresia IEA IEA OMIM-CS:abdomengastrointestinal > IMPERFORATE ANUS OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0001631 Atrial septal defect IEA IEA OMIM-CS:cardiovascularheart > ATRIAL SEPTAL DEFECT OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0001674 Complete atrioventricular canal defect IEA IEA OMIM-CS:cardiovascularheart > ATRIOVENTRICULAR CANAL OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0001629 Ventricular septal defect IEA IEA OMIM-CS:cardiovascularheart > VENTRICULAR SEPTAL DEFECT OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0008665 Clitoral hypertrophy IEA IEA OMIM-CS:genitourinaryexternalgenitaliafemale > CLITOROMEGALY OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0000047 Hypospadias IEA IEA OMIM-CS:genitourinaryexternalgenitaliamale > HYPOSPADIAS OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0000054 Micropenis IEA IEA OMIM-CS:genitourinaryexternalgenitaliamale > MICROPENIS OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0012227 Urethral stricture IEA IEA OMIM-CS:genitourinaryexternalgenitaliamale > URETHRAL STRICTURE OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0000028 Cryptorchidism IEA IEA OMIM-CS:genitourinaryinternalgenitaliamale > UNDESCENDED TESTES OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0000076 Vesicoureteral reflux IEA IEA OMIM-CS:genitourinaryureters > VESICOURETERAL REFLUX OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0004322 Short stature IEA IEA OMIM-CS:growthheight > SHORT STATURE OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0001510 Growth delay IEA IEA MODIFIER:PROGRESSIVE;OMIM-CS:growthother > GROWTH FAILURE, PROGRESSIVE OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0004325 Decreased body weight IEA IEA OMIM-CS:growthweight > LOW WEIGHT OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0000365 Hearing impairment IEA IEA OMIM-CS:headandneckears > HEARING LOSS OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0008551 Microtia IEA IEA OMIM-CS:headandneckears > MICROTIA OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0000545 Myopia IEA IEA OMIM-CS:headandneckeyes > MYOPIA OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0000520 Proptosis IEA IEA OMIM-CS:headandneckeyes > PROPTOSIS OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0000486 Strabismus IEA IEA OMIM-CS:headandneckeyes > STRABISMUS OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0045074 Thin eyebrow IEA IEA OMIM-CS:headandneckeyes > THIN EYEBROWS OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0001363 Craniosynostosis IEA IEA OMIM-CS:headandneckhead > CRANIOSYNOSTOSIS OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0000253 Progressive microcephaly IEA IEA OMIM-CS:headandneckhead > MICROCEPHALY, PROGRESSIVE OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0000175 Cleft palate IEA IEA OMIM-CS:headandneckmouth > CLEFT PALATE OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0000218 High palate IEA IEA OMIM-CS:headandneckmouth > HIGH PALATE OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0000160 Narrow mouth IEA IEA OMIM-CS:headandneckmouth > SMALL MOUTH OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0000453 Choanal atresia IEA IEA OMIM-CS:headandnecknose > CHOANAL ATRESIA OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0007099 Arnold-Chiari type I malformation IEA IEA OMIM-CS:neurologiccentralnervoussystem > CHIARI I MALFORMATION (IN 1 PATIENT) OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DEVELOPMENTAL DELAY, MILD TO SEVERE OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0002089 Pulmonary hypoplasia IEA IEA OMIM-CS:respiratorylung > PULMONARY HYPOPLASIA (IN 1 PATIENT) OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0004691 2-3 toe syndactyly IEA IEA OMIM-CS:skeletalfeet > SYNDACTYLY OF SECOND AND THIRD TOES OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0001217 Clubbing IEA IEA OMIM-CS:skeletalhands > DIGITAL CLUBBING (IN 1 PATIENT) OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0100258 Preaxial polydactyly IEA IEA OMIM-CS:skeletalhands > PREAXIAL POLYDACTYLY, BILATERAL (IN 1 PATIENT) OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0002979 Bowing of the legs IEA IEA OMIM-CS:skeletallimbs > BOWED LEGS (IN 1 PATIENT) OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0001388 Joint laxity IEA IEA OMIM-CS:skeletallimbs > JOINT LAXITY (IN 1 PATIENT) OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0006498 Aplasia/Hypoplasia of the patella IEA IEA OMIM-CS:skeletallimbs > PATELLAR APLASIA/HYPOPLASIA OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0000260 Wide anterior fontanel IEA IEA OMIM-CS:skeletalskull > LARGE ANTERIOR FONTANEL OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0000253 Progressive microcephaly IEA IEA OMIM-CS:skeletalskull > MICROCEPHALY, PROGRESSIVE OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0004442 Sagittal craniosynostosis IEA IEA OMIM-CS:skeletalskull > SAGITTAL CRANIOSYNOSTOSIS OMIM:617063 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617063 MEIER-GORLIN SYNDROME 7 HP:0002650 Scoliosis IEA IEA OMIM-CS:skeletalspine > SCOLIOSIS (IN 1 PATIENT) OMIM:617063 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616744 AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE HP:0001878 Hemolytic anemia IEA IEA rare OMIM-CS:hematology > HEMOLYTIC ANEMIA (1 PATIENT) OMIM:616744 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616744 AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE HP:0001873 Thrombocytopenia IEA IEA rare OMIM-CS:hematology > THROMBOCYTOPENIA (1 PATIENT) OMIM:616744 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616744 AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE HP:0000988 Skin rash IEA IEA rare OMIM-CS:skinnailshairskin > RASH (IN SOME PATIENTS) OMIM:616744 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312170 PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:312170 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617046 SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617046 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617046 SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE HP:0003677 Slow progression IEA IEA OMIM-CS:miscellaneous > SLOWLY PROGRESSIVE OMIM:617046 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617046 SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE HP:0007210 Lower limb amyotrophy IEA IEA OMIM-CS:musclesofttissue > LOWER LIMB AMYOTROPHY OMIM:617046 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617046 SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE HP:0003487 Babinski sign IEA IEA OMIM-CS:neurologiccentralnervoussystem > EXTENSOR PLANTAR RESPONSES OMIM:617046 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617046 SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE HP:0001347 Hyperreflexia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPERREFLEXIA OMIM:617046 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617046 SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE HP:0001258 Spastic paraplegia IEA IEA OMIM-CS:neurologiccentralnervoussystem > SPASTIC PARAPLEGIA OMIM:617046 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611126 MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:611126 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:272750 GM2-GANGLIOSIDOSIS, AB VARIANT HP:0003828 Variable expressivity IEA IEA OMIM-CS:miscellaneous > VARIABLE SEVERITY OMIM:272750 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:272750 GM2-GANGLIOSIDOSIS, AB VARIANT HP:0008936 Muscular hypotonia of the trunk IEA IEA OMIM-CS:musclesofttissue > AXIAL HYPOTONIA OMIM:272750 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:272750 GM2-GANGLIOSIDOSIS, AB VARIANT HP:0002059 Cerebral atrophy IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY OMIM:272750 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:272750 GM2-GANGLIOSIDOSIS, AB VARIANT HP:0002072 Chorea IEA IEA OMIM-CS:neurologiccentralnervoussystem > CHOREA OMIM:272750 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:272750 GM2-GANGLIOSIDOSIS, AB VARIANT HP:0001332 Dystonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > DYSTONIA OMIM:272750 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:272750 GM2-GANGLIOSIDOSIS, AB VARIANT HP:0010780 Hyperacusis IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPERACUSIS OMIM:272750 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:272750 GM2-GANGLIOSIDOSIS, AB VARIANT HP:0001347 Hyperreflexia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPERREFLEXIA OMIM:272750 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:272750 GM2-GANGLIOSIDOSIS, AB VARIANT HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:272750 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:272750 GM2-GANGLIOSIDOSIS, AB VARIANT HP:0002371 Loss of speech IEA IEA OMIM-CS:neurologiccentralnervoussystem > LOSS OF SPEECH OMIM:272750 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:272750 GM2-GANGLIOSIDOSIS, AB VARIANT HP:0002180 Neurodegeneration IEA IEA OMIM-CS:neurologiccentralnervoussystem > NEURODEGENERATION OMIM:272750 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:272750 GM2-GANGLIOSIDOSIS, AB VARIANT HP:0002476 Primitive reflex IEA IEA OMIM-CS:neurologiccentralnervoussystem > PRIMITIVE REFLEXES OMIM:272750 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:272750 GM2-GANGLIOSIDOSIS, AB VARIANT HP:0007256 Abnormal pyramidal signs IEA IEA OMIM-CS:neurologiccentralnervoussystem > PYRAMIDAL TRACT SIGNS OMIM:272750 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:272750 GM2-GANGLIOSIDOSIS, AB VARIANT HP:0001285 Spastic tetraparesis IEA IEA OMIM-CS:neurologiccentralnervoussystem > SPASTIC QUADRIPARESIS OMIM:272750 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:158600 SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT HP:0001263 Global developmental delay IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > COGNITIVE DELAY, MILD (1 PATIENT) OMIM:158600 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613443 MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:613443 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613443 MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:613443 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616228 MYASTHENIC SYNDROME, CONGENITAL, 14 HP:0001290 Generalized hypotonia IEA IEA rare OMIM-CS:musclesofttissue > HYPOTONIA (IN SOME PATIENTS) OMIM:616228 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614377 NEPHRONOPHTHISIS 13 HP:0001407 Hepatic cysts IEA IEA rare OMIM-CS:abdomenliver > HEPATIC CYSTS (IN SOME PATIENTS) OMIM:614377 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614377 NEPHRONOPHTHISIS 13 HP:0001737 Pancreatic cysts IEA IEA rare OMIM-CS:abdomenpancreas > PANCREATIC CYSTS (IN SOME PATIENTS) OMIM:614377 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614377 NEPHRONOPHTHISIS 13 HP:0000556 Retinal dystrophy IEA IEA rare OMIM-CS:headandneckeyes > RETINAL DYSTROPHY (IN SOME PATIENTS) OMIM:614377 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614377 NEPHRONOPHTHISIS 13 HP:0010442 Polydactyly IEA IEA rare OMIM-CS:skeletalhands > POLYDACTYLY (IN SOME PATIENTS) OMIM:614377 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:212350 SENGERS SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:212350 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:212350 SENGERS SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:212350 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602771 RIGID SPINE MUSCULAR DYSTROPHY 1 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:602771 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617392 ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE HP:0000316 Hypertelorism IEA IEA rare OMIM-CS:headandneckeyes > HYPERTELORISM (IN SOME PATIENTS) OMIM:617392 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617392 ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE HP:0012471 Thick vermilion border IEA IEA rare OMIM-CS:headandneckmouth > THICK LIPS (IN SOME PATIENTS) OMIM:617392 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617392 ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE HP:0000431 Wide nasal bridge IEA IEA rare OMIM-CS:headandnecknose > BROAD NASAL BRIDGE (IN SOME PATIENTS) OMIM:617392 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617392 ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE HP:0005280 Depressed nasal bridge IEA IEA rare OMIM-CS:headandnecknose > LOW NASAL BRIDGE (IN SOME PATIENTS) OMIM:617392 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617392 ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617392 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617392 ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE HP:0000294 Low anterior hairline IEA IEA OMIM-CS:skinnailshairhair > LOW ANTERIOR HAIRLINE OMIM:617392 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617392 ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE HP:0045074 Thin eyebrow IEA IEA OMIM-CS:skinnailshairhair > THIN EYEBROWS OMIM:617392 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617392 ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE HP:0000653 Sparse eyelashes IEA IEA OMIM-CS:skinnailshairhair > THIN EYELASHES OMIM:617392 HPO:skoehler 13.07.2017 ...filter this Fri Jul 08 00:00:00 CEST 2016 OMIM:215150 #215150 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED;;CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS;;NANCE-INSLEY SYNDROME;;NANCE-SWEENEY CHONDRODYSPLASIA HP:0004568 Beaking of vertebral bodies TAS TAS OMIM:215150 HPO:probinson 08-Jul-2016 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300419 MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED HP:0000629 Periorbital fullness IEA IEA rare OMIM-CS:headandneckeyes > PERIORBITAL FULLNESS (IN SOME PATIENTS) OMIM:300419 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300419 MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED HP:0000637 Long palpebral fissure IEA IEA rare OMIM-CS:headandneckeyes > WIDE PALPEBRAL FISSURES (IN SOME PATIENTS) OMIM:300419 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300419 MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED HP:0001250 Seizures IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > SEIZURES (IN SOME PATIENTS) OMIM:300419 HPO:skoehler 13.07.2017 ..............filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:100675 ACETAMINOPHEN METABOLISM HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:100675 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:100675 ACETAMINOPHEN METABOLISM HP:0000952 Jaundice IEA IEA OMIM-CS:skin > JAUNDICE OMIM:100675 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616892 NEPHROTIC SYNDROME, TYPE 12 HP:0001967 Diffuse mesangial sclerosis IEA IEA OMIM-CS:genitourinarykidneys > DIFFUSE MESANGIAL SCLEROSIS OMIM:616892 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616892 NEPHROTIC SYNDROME, TYPE 12 HP:0003774 Stage 5 chronic kidney disease IEA IEA OMIM-CS:genitourinarykidneys > END-STAGE RENAL DISEASE OMIM:616892 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616892 NEPHROTIC SYNDROME, TYPE 12 HP:0000790 Hematuria IEA IEA OMIM-CS:laboratoryabnormalities > HEMATURIA OMIM:616892 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616892 NEPHROTIC SYNDROME, TYPE 12 HP:0003676 Progressive IEA IEA OMIM-CS:miscellaneous > PROGRESSIVE DISORDER OMIM:616892 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611705 SALIH MYOPATHY HP:0001371 Flexion contracture IEA IEA OMIM-CS:skeletal > JOINT CONTRACTURES OMIM:611705 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611705 SALIH MYOPATHY HP:0002650 Scoliosis IEA IEA OMIM-CS:skeletalspine > SCOLIOSIS OMIM:611705 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300855 OGDEN SYNDROME HP:0010803 Everted upper lip vermilion IEA IEA OMIM-CS:headandneckmouth > PROTRUDING UPPER LIP OMIM:300855 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612527 DIAMOND-BLACKFAN ANEMIA 4 HP:0001631 Atrial septal defect IEA IEA OMIM-CS:cardiovascularheart > ATRIAL SEPTAL DEFECT OMIM:612527 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612527 DIAMOND-BLACKFAN ANEMIA 4 HP:0004322 Short stature IEA IEA OMIM-CS:growthheight > SHORT STATURE OMIM:612527 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612527 DIAMOND-BLACKFAN ANEMIA 4 HP:0001510 Growth delay IEA IEA OMIM-CS:growthother > GROWTH RETARDATION OMIM:612527 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612527 DIAMOND-BLACKFAN ANEMIA 4 HP:0001999 Abnormal facial shape IEA IEA OMIM-CS:headandneckface > FACIAL DYSMORPHISM OMIM:612527 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612527 DIAMOND-BLACKFAN ANEMIA 4 HP:0001875 Neutropenia IEA IEA OMIM-CS:hematology > NEUTROPENIA OMIM:612527 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:257920 3MC SYNDROME 1 HP:0001631 Atrial septal defect IEA IEA OMIM-CS:cardiovascularheart > ATRIAL SEPTAL DEFECT OMIM:257920 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:257920 3MC SYNDROME 1 HP:0001643 Patent ductus arteriosus IEA IEA OMIM-CS:cardiovascularheart > PATENT DUCTUS ARTERIOSUS OMIM:257920 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:257920 3MC SYNDROME 1 HP:0001629 Ventricular septal defect IEA IEA OMIM-CS:cardiovascularheart > VENTRICULAR SEPTAL DEFECT OMIM:257920 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:257920 3MC SYNDROME 1 HP:0002825 Caudal appendage IEA IEA OMIM-CS:skinnailshairskin > CAUDAL APPENDAGE (SACRAL CYST) OMIM:257920 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300498 MENTAL RETARDATION, X-LINKED 45 HP:0004322 Short stature IEA IEA OMIM-CS:growthheight > SHORT STATURE OMIM:300498 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300498 MENTAL RETARDATION, X-LINKED 45 HP:0000411 Protruding ear IEA IEA OMIM-CS:headandneckears > PROMINENT EARS OMIM:300498 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300498 MENTAL RETARDATION, X-LINKED 45 HP:0000218 High palate IEA IEA OMIM-CS:headandneckmouth > HIGH-ARCHED PALATE OMIM:300498 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300498 MENTAL RETARDATION, X-LINKED 45 HP:0000426 Prominent nasal bridge IEA IEA OMIM-CS:headandnecknose > HIGH NASAL BRIDGE OMIM:300498 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617049 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 HP:0001394 Cirrhosis IEA IEA OMIM-CS:abdomenliver > CIRRHOSIS OMIM:617049 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617049 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 HP:0001399 Hepatic failure IEA IEA OMIM-CS:abdomenliver > LIVER FAILURE OMIM:617049 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617049 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 HP:0001508 Failure to thrive IEA IEA OMIM-CS:growthother > FAILURE TO THRIVE OMIM:617049 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617049 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 HP:0008151 Prolonged prothrombin time IEA IEA OMIM-CS:hematology > PROLONGED PROTHROMBIN TIME OMIM:617049 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617049 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617049 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617049 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 HP:0002910 Elevated hepatic transaminases IEA IEA OMIM-CS:laboratoryabnormalities > ABNORMAL LIVER ENZYMES OMIM:617049 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617049 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 HP:0001987 Hyperammonemia IEA IEA OMIM-CS:laboratoryabnormalities > HYPERAMMONEMIA OMIM:617049 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617049 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 HP:0001943 Hypoglycemia IEA IEA OMIM-CS:laboratoryabnormalities > HYPOGLYCEMIA OMIM:617049 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617049 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 HP:0003678 Rapidly progressive IEA IEA OMIM-CS:miscellaneous > RAPID PROGRESSION OMIM:617049 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617049 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 HP:0000969 Edema IEA IEA rare OMIM-CS:prenatalmanifestationsamnioticfluid > HYDROPS (1 PATIENT) OMIM:617049 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617049 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 HP:0000952 Jaundice IEA IEA OMIM-CS:skinnailshairskin > JAUNDICE OMIM:617049 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610247 ESOPHAGITIS, EOSINOPHILIC, 1 HP:0410019 Epigastric pain IEA IEA OMIM-CS:abdomengastrointestinal > EPIGASTRIC PAIN OMIM:610247 HPO:skoehler 13.07.2017 ..........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617384 HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT HP:0000639 Nystagmus IEA IEA OMIM-CS:headandneckeyes > NYSTAGMUS OMIM:617384 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617384 HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617384 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617384 HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:617384 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617384 HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT HP:0002136 Broad-based gait IEA IEA OMIM-CS:neurologiccentralnervoussystem > BROAD-BASED GAIT OMIM:617384 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617384 HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:617384 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617384 HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT HP:0001332 Dystonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > DYSTONIA OMIM:617384 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617384 HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT HP:0002071 Abnormality of extrapyramidal motor function IEA IEA OMIM-CS:neurologiccentralnervoussystem > EXTRAPYRAMIDAL SIGNS OMIM:617384 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617384 HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT HP:0001256 Intellectual disability, mild IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, MILD OMIM:617384 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617384 HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT HP:0001300 Parkinsonism IEA IEA OMIM-CS:neurologiccentralnervoussystem > PARKINSONISM OMIM:617384 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617384 HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT HP:0000750 Delayed speech and language development IEA IEA OMIM-CS:neurologiccentralnervoussystem > SPEECH DELAY OMIM:617384 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300963 RITSCHER-SCHINZEL SYNDROME 2 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:300963 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7 HP:0000400 Macrotia IEA IEA OMIM-CS:headandneckears > LARGE EARS OMIM:614969 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7 HP:0000286 Epicanthus IEA IEA OMIM-CS:headandneckeyes > EPICANTHAL FOLDS OMIM:614969 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7 HP:0000639 Nystagmus IEA IEA OMIM-CS:headandneckeyes > NYSTAGMUS OMIM:614969 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7 HP:0000648 Optic atrophy IEA IEA OMIM-CS:headandneckeyes > OPTIC ATROPHY OMIM:614969 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7 HP:0000347 Micrognathia IEA IEA OMIM-CS:headandneckface > MICROGNATHIA OMIM:614969 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7 HP:0000215 Thick upper lip vermilion IEA IEA OMIM-CS:headandneckmouth > PROMINENT UPPER LIP OMIM:614969 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:614969 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7 HP:0003577 Congenital onset IEA IEA OMIM-CS:miscellaneous > ONSET AT BIRTH OMIM:614969 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:614969 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7 HP:0001336 Myoclonus IEA IEA OMIM-CS:neurologiccentralnervoussystem > MYOCLONUS OMIM:614969 HPO:skoehler 13.07.2017 .... ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600373 CODAS SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:600373 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600373 CODAS SYNDROME HP:0008081 Pes valgus IEA IEA OMIM-CS:skeletalfeet > PES VALGUS OMIM:600373 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616202 CEREBELLOFACIODENTAL SYNDROME HP:0002213 Fine hair IEA IEA OMIM-CS:skinnailshairhair > THIN HAIR OMIM:616202 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617153 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 HP:0100704 Cortical visual impairment IEA IEA OMIM-CS:headandneckeyes > CORTICAL VISUAL IMPAIRMENT (IN 1 OF 2 PATIENTS) OMIM:617153 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617153 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:617153 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617153 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 HP:0003593 Infantile onset IEA IEA OMIM-CS:miscellaneous > ONSET IN INFANCY OMIM:617153 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617153 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:617153 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617153 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 HP:0001251 Ataxia IEA IEA OMIM-CS:neurologiccentralnervoussystem > ATAXIA OMIM:617153 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617153 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:617153 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617153 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 HP:0200134 Epileptic encephalopathy IEA IEA OMIM-CS:neurologiccentralnervoussystem > EPILEPTIC ENCEPHALOPATHY OMIM:617153 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617153 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 HP:0002521 Hypsarrhythmia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPSARRHYTHMIA OMIM:617153 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617153 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 HP:0002376 Developmental regression IEA IEA OMIM-CS:neurologiccentralnervoussystem > PSYCHOMOTOR REGRESSION OMIM:617153 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617153 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 HP:0001250 Seizures IEA IEA OMIM-CS:neurologiccentralnervoussystem > SEIZURES OMIM:617153 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617153 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 HP:0002079 Hypoplasia of the corpus callosum IEA IEA OMIM-CS:neurologiccentralnervoussystem > THIN CORPUS CALLOSUM (IN 1 OF 2 PATIENTS) OMIM:617153 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616204 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:616204 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:156810 MICROGASTRIA-LIMB REDUCTION DEFECTS ASSOCIATION HP:0025410 Splenogonadal fusion IEA IEA OMIM-CS:abdomenspleen > SPLENOGONADAL FUSION OMIM:156810 HPO:skoehler 13.07.2017 .........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616606 RING CHROMOSOME 14 SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:616606 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600775 CRANIOSYNOSTOSIS 4 HP:0011326 Anterior plagiocephaly IEA IEA rare OMIM-CS:skeletalskull > CORONAL SYNOSTOSIS (IN SOME PATIENTS) OMIM:600775 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617409 DIAMOND-BLACKFAN ANEMIA 17 HP:0001903 Anemia IEA IEA OMIM-CS:hematology > ANEMIA OMIM:617409 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617409 DIAMOND-BLACKFAN ANEMIA 17 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:617409 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617409 DIAMOND-BLACKFAN ANEMIA 17 HP:0001000 Abnormality of skin pigmentation IEA IEA OMIM-CS:skinnailshairskin > ABNORMAL PIGMENTATION OMIM:617409 HPO:skoehler 13.07.2017 ........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616516 EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:616516 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616516 EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE HP:0003676 Progressive IEA IEA OMIM-CS:miscellaneous > PROGRESSIVE DISORDER OMIM:616516 HPO:skoehler 13.07.2017 ...........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614437 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:614437 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:309560 MENTAL RETARDATION WITH SPASTIC PARAPLEGIA AND PALMOPLANTAR HYPERKERATOSIS HP:0001337 Tremor IEA IEA OMIM-CS:neurologiccentralnervoussystem > TREMORS (IN HANDS) OMIM:309560 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:301590 MICROPHTHALMIA, SYNDROMIC 4 HP:0000528 Anophthalmia IEA IEA OMIM-CS:headandneckeyes > ANOPHTHALMIA, CLINICAL OMIM:301590 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:301590 MICROPHTHALMIA, SYNDROMIC 4 HP:0001419 X-linked recessive inheritance IEA IEA OMIM-CS:inheritance > X-LINKED RECESSIVE OMIM:301590 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612513 CHROMOSOME 2P16.1-P15 DELETION SYNDROME HP:0000028 Cryptorchidism IEA IEA OMIM-CS:genitourinaryexternalgenitaliamale > CRYPTORCHIDISM OMIM:612513 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612513 CHROMOSOME 2P16.1-P15 DELETION SYNDROME HP:0000369 Low-set ears IEA IEA OMIM-CS:headandneckears > LOW-SET EARS OMIM:612513 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612513 CHROMOSOME 2P16.1-P15 DELETION SYNDROME HP:0000358 Posteriorly rotated ears IEA IEA OMIM-CS:headandneckears > POSTERIORLY ROTATED EARS OMIM:612513 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612513 CHROMOSOME 2P16.1-P15 DELETION SYNDROME HP:0000219 Thin upper lip vermilion IEA IEA OMIM-CS:headandneckmouth > THIN UPPER LIP OMIM:612513 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612513 CHROMOSOME 2P16.1-P15 DELETION SYNDROME HP:0005280 Depressed nasal bridge IEA IEA OMIM-CS:headandnecknose > DEPRESSED NASAL ROOT OMIM:612513 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612513 CHROMOSOME 2P16.1-P15 DELETION SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:612513 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612513 CHROMOSOME 2P16.1-P15 DELETION SYNDROME HP:0002059 Cerebral atrophy IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY OMIM:612513 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612513 CHROMOSOME 2P16.1-P15 DELETION SYNDROME HP:0002119 Ventriculomegaly IEA IEA OMIM-CS:neurologiccentralnervoussystem > ENLARGED VENTRICLES OMIM:612513 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612513 CHROMOSOME 2P16.1-P15 DELETION SYNDROME HP:0002079 Hypoplasia of the corpus callosum IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOPLASIA OF THE CORPUS CALLOSUM OMIM:612513 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612513 CHROMOSOME 2P16.1-P15 DELETION SYNDROME HP:0012110 Hypoplasia of the pons IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOPLASIA OF THE PONS OMIM:612513 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:129200 BASAN SYNDROME HP:0025092 Epidermal acanthosis IEA IEA OMIM-CS:skinnailshairskinhistology > ACANTHOSIS OMIM:129200 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601776 EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:601776 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617389 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 HP:0011968 Feeding difficulties IEA IEA OMIM-CS:abdomengastrointestinal > FEEDING DIFFICULTIES OMIM:617389 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617389 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617389 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617389 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 HP:0003236 Elevated serum creatine phosphokinase IEA IEA OMIM-CS:laboratoryabnormalities > INCREASED SERUM CREATINE KINASE (FAMILY A) OMIM:617389 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617389 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 HP:0002151 Increased serum lactate IEA IEA OMIM-CS:laboratoryabnormalities > INCREASED SERUM LACTATE (FAMILY A) OMIM:617389 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617389 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 HP:0002344 Progressive neurologic deterioration IEA IEA OMIM-CS:miscellaneous > PROGRESSIVE NEURODEGENERATION OMIM:617389 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617389 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:617389 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617389 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 HP:0200134 Epileptic encephalopathy IEA IEA OMIM-CS:neurologiccentralnervoussystem > EPILEPTIC ENCEPHALOPATHY OMIM:617389 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617389 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 HP:0002187 Intellectual disability, profound IEA IEA OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION, PROFOUND OMIM:617389 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617389 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 HP:0001250 Seizures IEA IEA MODIFIER:REFRACTORY;OMIM-CS:neurologiccentralnervoussystem > SEIZURES, REFRACTORY OMIM:617389 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617389 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 HP:0002510 Spastic tetraplegia IEA IEA OMIM-CS:neurologiccentralnervoussystem > SPASTIC QUADRIPLEGIA OMIM:617389 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617389 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 HP:0002133 Status epilepticus IEA IEA OMIM-CS:neurologiccentralnervoussystem > STATUS EPILEPTICUS OMIM:617389 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617389 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 HP:0002079 Hypoplasia of the corpus callosum IEA IEA OMIM-CS:neurologiccentralnervoussystem > THIN CORPUS CALLOSUM (IN 1 PATIENT) OMIM:617389 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:263100 POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS HP:0025492 Microcoria IEA IEA OMIM-CS:eyes > MICROCORIA OMIM:263100 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616622 IMMUNODEFICIENCY 42 HP:0000778 Hypoplasia of the thymus IEA IEA OMIM-CS:immunology > SMALL THYMUS OMIM:616622 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616622 IMMUNODEFICIENCY 42 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:616622 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616622 IMMUNODEFICIENCY 42 HP:0003593 Infantile onset IEA IEA OMIM-CS:miscellaneous > ONSET IN INFANCY OMIM:616622 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616287 LETHAL CONGENITAL CONTRACTURE SYNDROME 8 HP:0200136 Oral-pharyngeal dysphagia IEA IEA OMIM-CS:abdomengastrointestinal > DIFFICULTY SWALLOWING OMIM:616287 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616287 LETHAL CONGENITAL CONTRACTURE SYNDROME 8 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologicperipheralnervoussystem > HYPOTONIA OMIM:616287 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:201810 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY HP:0012411 Premature pubarche IEA IEA OMIM-CS:endocrinefeatures > PREMATURE PUBARCHE OMIM:201810 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:201810 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY HP:0000062 Ambiguous genitalia IEA IEA OMIM-CS:genitourinaryexternalgenitaliafemale > AMBIGUOUS GENITALIA OMIM:201810 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:201810 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY HP:0008707 Absent scrotum IEA IEA OMIM-CS:genitourinaryexternalgenitaliamale > ABSENT SCROTUM OMIM:201810 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:201810 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY HP:0000062 Ambiguous genitalia IEA IEA OMIM-CS:genitourinaryexternalgenitaliamale > AMBIGUOUS GENITALIA OMIM:201810 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:201810 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY HP:0000048 Bifid scrotum IEA IEA OMIM-CS:genitourinaryexternalgenitaliamale > BIFID SCROTUM OMIM:201810 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:201810 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY HP:0000054 Micropenis IEA IEA OMIM-CS:genitourinaryexternalgenitaliamale > MICROPENIS OMIM:201810 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:201810 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:201810 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613834 MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME HP:0030891 Periventricular white matter hyperdensities IEA IEA OMIM-CS:neurologiccentralnervoussystem > PERIVENTRICULAR WHITE MATTER HYPERINTENSITIES, BILATERAL OMIM:613834 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616756 SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES HP:0004322 Short stature IEA IEA rare OMIM-CS:growthheight > SHORT STATURE (IN SOME PATIENTS) OMIM:616756 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616756 SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES HP:0001513 Obesity IEA IEA rare OMIM-CS:growthweight > OBESITY (IN SOME PATIENTS) OMIM:616756 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616756 SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES HP:0000545 Myopia IEA IEA rare OMIM-CS:headandneckeyes > MYOPIA (IN SOME PATIENTS) OMIM:616756 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616756 SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES HP:0000252 Microcephaly IEA IEA rare OMIM-CS:headandneckhead > MICROCEPHALY (IN SOME PATIENTS) OMIM:616756 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616756 SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:616756 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616756 SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES HP:0001251 Ataxia IEA IEA OMIM-CS:neurologiccentralnervoussystem > ATAXIA OMIM:616756 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616756 SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES HP:0012448 Delayed myelination IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > DELAYED MYELINATION (IN SOME PATIENTS) OMIM:616756 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616756 SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES HP:0001332 Dystonia IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > DYSTONIA (IN SOME PATIENTS) OMIM:616756 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616756 SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES HP:0002079 Hypoplasia of the corpus callosum IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > HYPOPLASTIC CORPUS CALLOSUM (IN SOME PATIENTS) OMIM:616756 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616756 SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES HP:0002540 Inability to walk IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > INABILITY TO WALK (IN SOME PATIENTS) OMIM:616756 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616756 SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES HP:0001249 Intellectual disability IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY OMIM:616756 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616756 SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES HP:0002123 Generalized myoclonic seizures IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > MYOCLONIC SEIZURES (IN SOME PATIENTS) OMIM:616756 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616756 SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES HP:0002827 Hip dislocation IEA IEA rare OMIM-CS:skeletalpelvis > HIP DISLOCATION (IN SOME PATIENTS) OMIM:616756 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616756 SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES HP:0002808 Kyphosis IEA IEA rare OMIM-CS:skeletalspine > KYPHOSIS (IN SOME PATIENTS) OMIM:616756 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616756 SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES HP:0002650 Scoliosis IEA IEA rare OMIM-CS:skeletalspine > SCOLIOSIS (IN SOME PATIENTS) OMIM:616756 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:606056 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:606056 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614482 CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:614482 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613163 GABA-TRANSAMINASE DEFICIENCY HP:0025430 High-pitched cry IEA IEA OMIM-CS:voice > HIGH-PITCHED CRY OMIM:613163 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:603896 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300048 INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED HP:0030889 Congenital shortened small intestine IEA IEA rare OMIM-CS:abdomengastrointestinal > SHORT BOWEL (IN SOME PATIENTS) OMIM:300048 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300048 INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED HP:0040309 Increased size of the mandible IEA IEA OMIM-CS:headandneckface > LARGE JAW OMIM:300048 HPO:skoehler 13.07.2017 ........ ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:110800 BLOOD GROUP, I SYSTEM HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:110800 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612281 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 HP:0025092 Epidermal acanthosis IEA IEA MODIFIER:MODERATE;OMIM-CS:skinnailshairskinhistology > ACANTHOSIS, MODERATE OMIM:612281 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616414 AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE HP:0002098 Respiratory distress IEA IEA OMIM-CS:respiratory > SHORTNESS OF BREATH OMIM:616414 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616414 AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE HP:0040223 Pulmonary hemorrhage IEA IEA OMIM-CS:respiratorylung > PULMONARY HEMORRHAGE OMIM:616414 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616875 CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION HP:0003676 Progressive IEA IEA OMIM-CS:miscellaneous > PROGRESSIVE DISORDER OMIM:616875 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616875 CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:616875 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616875 CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION HP:0002059 Cerebral atrophy IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY (IN SOME PATIENTS) OMIM:616875 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616875 CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION HP:0001332 Dystonia IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > DYSTONIA (IN SOME PATIENTS) OMIM:616875 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616875 CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION HP:0001249 Intellectual disability IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY OMIM:616875 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616875 CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION HP:0002079 Hypoplasia of the corpus callosum IEA IEA OMIM-CS:neurologiccentralnervoussystem > THIN CORPUS CALLOSUM OMIM:616875 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600627 HYPERTRYPTOPHANEMIA, FAMILIAL HP:0025268 Stuttering IEA IEA OMIM-CS:neurologicbehavioralpsychiatricmanifestations > STUTTERING, SEVERE (IN BROTHER) OMIM:600627 HPO:skoehler 13.07.2017 .........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:201550 ADDUCTED THUMBS SYNDROME HP:0002705 High, narrow palate IEA IEA OMIM-CS:mouth > PALATE HIGH-ARCHED OMIM:201550 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612164 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:612164 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:124900 DEAFNESS, AUTOSOMAL DOMINANT 1 HP:0001873 Thrombocytopenia IEA IEA rare OMIM-CS:hematology > THROMBOCYTOPENIA (IN SOME PATIENTS) OMIM:124900 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612868 CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS HP:0009918 Ectopia pupillae IEA IEA rare OMIM-CS:headandneckeyes > CORECTOPIA (IN SOME PATIENTS) OMIM:612868 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612868 CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS HP:0000612 Iris coloboma IEA IEA rare OMIM-CS:headandneckeyes > IRIS COLOBOMA (IN SOME PATIENTS) OMIM:612868 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612868 CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS HP:0003680 Nonprogressive IEA IEA OMIM-CS:miscellaneous > NONPROGRESSIVE OMIM:612868 HPO:skoehler 13.07.2017 .filter this Sun May 28 00:00:00 CEST 2017 OMIM:146510 PALLISTER-HALL SYNDROME HP:0000086 Ectopic kidney TAS TAS Occasional OMIM:146510 HPO:probinson 2017-05-28 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:146510 PALLISTER-HALL SYNDROME HP:0000086 Ectopic kidney IEA IEA OMIM-CS:genitourinarykidneys > RENAL ECTOPIA OMIM:146510 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614101 PLASMA FIBRONECTIN DEFICIENCY HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:614101 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613765 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 HP:0001639 Hypertrophic cardiomyopathy IEA IEA OMIM-CS:cardiovascularheart > HYPERTROPHIC CARDIOMYOPATHY OMIM:613765 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616903 THIOPURINES, POOR METABOLISM OF, 2 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:616903 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608931 MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:608931 HPO:skoehler 13.07.2017 .filter this Wed Jun 21 00:00:00 CEST 2017 OMIM:611913 CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB HP:0001466 Contiguous gene syndrome TAS TAS OMIM:611913 HPO:probinson 2017-06-21 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617270 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 HP:0004322 Short stature IEA IEA rare OMIM-CS:growthheight > SHORT STATURE (1 PATIENT) OMIM:617270 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617270 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 HP:0003676 Progressive IEA IEA OMIM-CS:miscellaneous > PROGRESSIVE DISORDER OMIM:617270 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617270 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 HP:0000718 Aggressive behavior IEA IEA OMIM-CS:neurologicbehavioralpsychiatricmanifestations > AGGRESSIVE BEHAVIOR OMIM:617270 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617270 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 HP:0001266 Choreoathetosis IEA IEA OMIM-CS:neurologiccentralnervoussystem > CHOREOATHETOSIS OMIM:617270 HPO:skoehler 13.07.2017 ...............filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615593 IMMUNODEFICIENCY 16 HP:0003621 Juvenile onset IEA IEA OMIM-CS:miscellaneous > JUVENILE ONSET OMIM:615593 HPO:skoehler 13.07.2017 ..............filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617405 SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY HP:0004322 Short stature IEA IEA OMIM-CS:growthheight > SHORT STATURE OMIM:617405 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617405 SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617405 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617405 SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY HP:0010442 Polydactyly IEA IEA rare OMIM-CS:skeletalfeet > POLYDACTYLY (IN SOME PATIENTS) OMIM:617405 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617405 SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY HP:0001156 Brachydactyly IEA IEA OMIM-CS:skeletalhands > BRACHYDACTYLY OMIM:617405 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617405 SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY HP:0010442 Polydactyly IEA IEA rare OMIM-CS:skeletalhands > POLYDACTYLY (IN SOME PATIENTS) OMIM:617405 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617050 HERMANSKY-PUDLAK SYNDROME 10 HP:0011968 Feeding difficulties IEA IEA OMIM-CS:abdomengastrointestinal > FEEDING DIFFICULTIES OMIM:617050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617050 HERMANSKY-PUDLAK SYNDROME 10 HP:0002240 Hepatomegaly IEA IEA OMIM-CS:abdomenliver > HEPATOMEGALY OMIM:617050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617050 HERMANSKY-PUDLAK SYNDROME 10 HP:0001744 Splenomegaly IEA IEA OMIM-CS:abdomenspleen > SPLENOMEGALY OMIM:617050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617050 HERMANSKY-PUDLAK SYNDROME 10 HP:0000400 Macrotia IEA IEA OMIM-CS:headandneckears > LARGE EARS OMIM:617050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617050 HERMANSKY-PUDLAK SYNDROME 10 HP:0000369 Low-set ears IEA IEA OMIM-CS:headandneckears > LOW-SET EARS OMIM:617050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617050 HERMANSKY-PUDLAK SYNDROME 10 HP:0000601 Hypotelorism IEA IEA OMIM-CS:headandneckeyes > HYPOTELORISM OMIM:617050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617050 HERMANSKY-PUDLAK SYNDROME 10 HP:0000639 Nystagmus IEA IEA OMIM-CS:headandneckeyes > NYSTAGMUS OMIM:617050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617050 HERMANSKY-PUDLAK SYNDROME 10 HP:0001107 Ocular albinism IEA IEA OMIM-CS:headandneckeyes > OCULAR ALBINISM OMIM:617050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617050 HERMANSKY-PUDLAK SYNDROME 10 HP:0000319 Smooth philtrum IEA IEA OMIM-CS:headandneckface > FLAT PHILTRUM OMIM:617050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617050 HERMANSKY-PUDLAK SYNDROME 10 HP:0000278 Retrognathia IEA IEA OMIM-CS:headandneckface > RETROGNATHIA OMIM:617050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617050 HERMANSKY-PUDLAK SYNDROME 10 HP:0000252 Microcephaly IEA IEA OMIM-CS:headandneckhead > MICROCEPHALY OMIM:617050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617050 HERMANSKY-PUDLAK SYNDROME 10 HP:0002721 Immunodeficiency IEA IEA OMIM-CS:immunology > IMMUNODEFICIENCY OMIM:617050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617050 HERMANSKY-PUDLAK SYNDROME 10 HP:0001875 Neutropenia IEA IEA OMIM-CS:immunology > NEUTROPENIA OMIM:617050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617050 HERMANSKY-PUDLAK SYNDROME 10 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617050 HERMANSKY-PUDLAK SYNDROME 10 HP:0003593 Infantile onset IEA IEA OMIM-CS:miscellaneous > ONSET IN INFANCY OMIM:617050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617050 HERMANSKY-PUDLAK SYNDROME 10 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:617050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617050 HERMANSKY-PUDLAK SYNDROME 10 HP:0002353 EEG abnormality IEA IEA OMIM-CS:neurologiccentralnervoussystem > ABNORMAL EEG OMIM:617050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617050 HERMANSKY-PUDLAK SYNDROME 10 HP:0002059 Cerebral atrophy IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY OMIM:617050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617050 HERMANSKY-PUDLAK SYNDROME 10 HP:0012448 Delayed myelination IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED MYELINATION OMIM:617050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617050 HERMANSKY-PUDLAK SYNDROME 10 HP:0001332 Dystonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > DYSTONIA OMIM:617050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617050 HERMANSKY-PUDLAK SYNDROME 10 HP:0002069 Generalized tonic-clonic seizures IEA IEA OMIM-CS:neurologiccentralnervoussystem > GENERALIZED TONIC-CLONIC SEIZURES OMIM:617050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617050 HERMANSKY-PUDLAK SYNDROME 10 HP:0002123 Generalized myoclonic seizures IEA IEA OMIM-CS:neurologiccentralnervoussystem > MYOCLONIC SEIZURES OMIM:617050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617050 HERMANSKY-PUDLAK SYNDROME 10 HP:0001250 Seizures IEA IEA MODIFIER:REFRACTORY;OMIM-CS:neurologiccentralnervoussystem > SEIZURES, REFRACTORY OMIM:617050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617050 HERMANSKY-PUDLAK SYNDROME 10 HP:0008936 Muscular hypotonia of the trunk IEA IEA OMIM-CS:neurologiccentralnervoussystem > TRUNCAL HYPOTONIA OMIM:617050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617050 HERMANSKY-PUDLAK SYNDROME 10 HP:0002205 Recurrent respiratory infections IEA IEA OMIM-CS:respiratory > RECURRENT RESPIRATORY INFECTIONS OMIM:617050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617050 HERMANSKY-PUDLAK SYNDROME 10 HP:0006530 Interstitial pulmonary abnormality IEA IEA OMIM-CS:respiratorylung > INTERSTITIAL LUNG DISEASE OMIM:617050 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615351 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 HP:0009055 Generalized limb muscle atrophy IEA IEA OMIM-CS:musclesofttissue > GENERALIZED MUSCLE WASTING OMIM:615351 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615351 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:615351 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611706 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 12 HP:0002018 Nausea IEA IEA OMIM-CS:abdomengastrointestinal > NAUSEA OMIM:611706 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611706 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 12 HP:0002013 Vomiting IEA IEA OMIM-CS:abdomengastrointestinal > VOMITING OMIM:611706 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611706 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 12 HP:0002183 Phonophobia IEA IEA OMIM-CS:headandneckears > PHONOPHOBIA OMIM:611706 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611706 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 12 HP:0000613 Photophobia IEA IEA OMIM-CS:headandneckeyes > PHOTOPHOBIA OMIM:611706 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611706 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 12 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:611706 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611706 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 12 HP:0002315 Headache IEA IEA OMIM-CS:neurologiccentralnervoussystem > HEADACHE OMIM:611706 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615873 HELSMOORTEL-VAN DER AA SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:615873 HPO:skoehler 13.07.2017 ........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300908 ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY HP:0001419 X-linked recessive inheritance IEA IEA OMIM-CS:inheritance > X-LINKED RECESSIVE OMIM:300908 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III HP:0012368 Flat face IEA IEA OMIM-CS:facies > FLAT FACIES OMIM:101120 HPO:skoehler 13.07.2017 .. ..filter this Wed Jun 21 00:00:00 CEST 2017 OMIM:612840 LEUKOCYTE ADHESION DEFICIENCY, TYPE III; LAD3 HP:0002240 Hepatomegaly TAS TAS OMIM:612840 HPO:skoehler 2017-06-21 filter this Wed Jun 21 00:00:00 CEST 2017 OMIM:612840 LEUKOCYTE ADHESION DEFICIENCY, TYPE III; LAD3 HP:0003593 Infantile onset TAS TAS OMIM:612840 HPO:skoehler 2017-06-21 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612840 LEUKOCYTE ADHESION DEFICIENCY, TYPE III HP:0002240 Hepatomegaly IEA IEA OMIM-CS:abdomenliver > HEPATOMEGALY OMIM:612840 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612840 LEUKOCYTE ADHESION DEFICIENCY, TYPE III HP:0003593 Infantile onset IEA IEA OMIM-CS:miscellaneous > ONSET IN INFANCY OMIM:612840 HPO:skoehler 13.07.2017 ........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:609180 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF HP:0003256 Abnormality of the coagulation cascade IEA IEA rare OMIM-CS:hematology > COAGULOPATHY, MILD (IN SOME PATIENTS) OMIM:609180 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:609180 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:609180 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:606631 CAMURATI-ENGELMANN DISEASE, TYPE 2 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:606631 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604809 PANBRONCHIOLITIS, DIFFUSE HP:0030828 Wheezing IEA IEA OMIM-CS:respiratory > WHEEZING OMIM:604809 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604809 PANBRONCHIOLITIS, DIFFUSE HP:0030830 Rales IEA IEA OMIM-CS:respiratorylung > CRACKLES OMIM:604809 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604809 PANBRONCHIOLITIS, DIFFUSE HP:0003651 Foam cells IEA IEA OMIM-CS:respiratorylung > FOAMY MACROPHAGES OMIM:604809 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604809 PANBRONCHIOLITIS, DIFFUSE HP:0030831 Rhonchi IEA IEA OMIM-CS:respiratorylung > RHONCHI OMIM:604809 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617383 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:617383 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617235 MYOCLONUS, INTRACTABLE, NEONATAL HP:0002015 Dysphagia IEA IEA OMIM-CS:abdomengastrointestinal > DYSPHAGIA OMIM:617235 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617235 MYOCLONUS, INTRACTABLE, NEONATAL HP:0011968 Feeding difficulties IEA IEA OMIM-CS:abdomengastrointestinal > POOR FEEDING OMIM:617235 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617235 MYOCLONUS, INTRACTABLE, NEONATAL HP:0100704 Cortical visual impairment IEA IEA OMIM-CS:headandneckeyes > CORTICAL VISUAL IMPAIRMENT OMIM:617235 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617235 MYOCLONUS, INTRACTABLE, NEONATAL HP:0000639 Nystagmus IEA IEA OMIM-CS:headandneckeyes > NYSTAGMUS OMIM:617235 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617235 MYOCLONUS, INTRACTABLE, NEONATAL HP:0000508 Ptosis IEA IEA OMIM-CS:headandneckeyes > PTOSIS OMIM:617235 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617235 MYOCLONUS, INTRACTABLE, NEONATAL HP:0000252 Microcephaly IEA IEA OMIM-CS:headandneckhead > MICROCEPHALY OMIM:617235 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617235 MYOCLONUS, INTRACTABLE, NEONATAL HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:617235 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617235 MYOCLONUS, INTRACTABLE, NEONATAL HP:0003577 Congenital onset IEA IEA OMIM-CS:miscellaneous > ONSET AT BIRTH OMIM:617235 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617235 MYOCLONUS, INTRACTABLE, NEONATAL HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:617235 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617235 MYOCLONUS, INTRACTABLE, NEONATAL HP:0002305 Athetosis IEA IEA OMIM-CS:neurologiccentralnervoussystem > ATHETOID MOVEMENTS OMIM:617235 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617235 MYOCLONUS, INTRACTABLE, NEONATAL HP:0002072 Chorea IEA IEA OMIM-CS:neurologiccentralnervoussystem > CHOREIFORM MOVEMENTS OMIM:617235 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617235 MYOCLONUS, INTRACTABLE, NEONATAL HP:0012448 Delayed myelination IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED MYELINATION OMIM:617235 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617235 MYOCLONUS, INTRACTABLE, NEONATAL HP:0007281 Developmental stagnation IEA IEA OMIM-CS:neurologiccentralnervoussystem > DEVELOPMENTAL ARREST OMIM:617235 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617235 MYOCLONUS, INTRACTABLE, NEONATAL HP:0006980 Progressive leukoencephalopathy IEA IEA OMIM-CS:neurologiccentralnervoussystem > LEUKOENCEPHALOPATHY, PROGRESSIVE OMIM:617235 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615760 MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:615760 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615760 MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:615760 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:251950 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612783 IMMUNODEFICIENCY 10 HP:0003828 Variable expressivity IEA IEA OMIM-CS:miscellaneous > VARIABLE SEVERITY OMIM:612783 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612783 IMMUNODEFICIENCY 10 HP:0002164 Nail dysplasia IEA IEA OMIM-CS:skinnailshairnails > NAIL DYSPLASIA OMIM:612783 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612783 IMMUNODEFICIENCY 10 HP:0000966 Hypohidrosis IEA IEA OMIM-CS:skinnailshairskin > HYPOHIDROSIS OMIM:612783 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614877 PEROXISOME BIOGENESIS DISORDER 8B HP:0002019 Constipation IEA IEA OMIM-CS:abdomengastrointestinal > CONSTIPATION OMIM:614877 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614877 PEROXISOME BIOGENESIS DISORDER 8B HP:0001508 Failure to thrive IEA IEA OMIM-CS:growthother > FAILURE TO THRIVE OMIM:614877 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614877 PEROXISOME BIOGENESIS DISORDER 8B HP:0000639 Nystagmus IEA IEA OMIM-CS:headandneckeyes > NYSTAGMUS OMIM:614877 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614877 PEROXISOME BIOGENESIS DISORDER 8B HP:0003676 Progressive IEA IEA OMIM-CS:miscellaneous > PROGRESSIVE DISORDER OMIM:614877 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614877 PEROXISOME BIOGENESIS DISORDER 8B HP:0006855 Cerebellar vermis atrophy IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR VERMIS ATROPHY OMIM:614877 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614877 PEROXISOME BIOGENESIS DISORDER 8B HP:0100543 Cognitive impairment IEA IEA OMIM-CS:neurologiccentralnervoussystem > COGNITIVE IMPAIRMENT, MILD OMIM:614877 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614877 PEROXISOME BIOGENESIS DISORDER 8B HP:0007371 Corpus callosum atrophy IEA IEA OMIM-CS:neurologiccentralnervoussystem > CORPUS CALLOSUM ATROPHY OMIM:614877 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614877 PEROXISOME BIOGENESIS DISORDER 8B HP:0001260 Dysarthria IEA IEA OMIM-CS:neurologiccentralnervoussystem > DYSARTHRIA OMIM:614877 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614877 PEROXISOME BIOGENESIS DISORDER 8B HP:0001310 Dysmetria IEA IEA OMIM-CS:neurologiccentralnervoussystem > DYSMETRIA OMIM:614877 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614877 PEROXISOME BIOGENESIS DISORDER 8B HP:0002015 Dysphagia IEA IEA OMIM-CS:neurologiccentralnervoussystem > DYSPHAGIA OMIM:614877 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614877 PEROXISOME BIOGENESIS DISORDER 8B HP:0002313 Spastic paraparesis IEA IEA OMIM-CS:neurologiccentralnervoussystem > SPASTIC PARAPARESIS OMIM:614877 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614877 PEROXISOME BIOGENESIS DISORDER 8B HP:0001257 Spasticity IEA IEA OMIM-CS:neurologiccentralnervoussystem > SPASTICITY (PARTICULARLY OF LOWER LIMBS) OMIM:614877 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614744 FACIAL PARESIS, HEREDITARY CONGENITAL, 3 HP:0000407 Sensorineural hearing impairment IEA IEA OMIM-CS:headandneckears > HEARING LOSS, SENSORINEURAL, MILD TO MODERATE OMIM:614744 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614744 FACIAL PARESIS, HEREDITARY CONGENITAL, 3 HP:0025312 Esophoria IEA IEA rare OMIM-CS:headandneckeyes > ESOPHORIA (IN SOME PATIENTS) OMIM:614744 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610090 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY HP:0000496 Abnormality of eye movement IEA IEA OMIM-CS:headandneckeyes > EYE MOVEMENT ABNORMALITIES OMIM:610090 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610090 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > GLOBAL DEVELOPMENTAL DELAY, VARIABLE SEVERITY OMIM:610090 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610090 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY HP:0001276 Hypertonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPERTONIA OMIM:610090 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610090 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY HP:0002317 Unsteady gait IEA IEA OMIM-CS:neurologiccentralnervoussystem > UNSTEADY GAIT OMIM:610090 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616366 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 HP:0001249 Intellectual disability IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, MILD TO PROFOUND OMIM:616366 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300957 MENTAL RETARDATION, X-LINKED 12 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:300957 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617301 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE HP:0002015 Dysphagia IEA IEA OMIM-CS:abdomengastrointestinal > SWALLOWING DIFFICULTIES OMIM:617301 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617301 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE HP:0000369 Low-set ears IEA IEA OMIM-CS:headandneckears > LOW-SET EARS OMIM:617301 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617301 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE HP:0000648 Optic atrophy IEA IEA rare OMIM-CS:headandneckeyes > OPTIC ATROPHY (IN SOME PATIENTS) OMIM:617301 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617301 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE HP:0002058 Myopathic facies IEA IEA OMIM-CS:headandneckface > MYOPATHIC FACIES OMIM:617301 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617301 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE HP:0000278 Retrognathia IEA IEA OMIM-CS:headandneckface > RETROGNATHIA OMIM:617301 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617301 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE HP:0000252 Microcephaly IEA IEA rare OMIM-CS:headandneckhead > MICROCEPHALY (IN SOME PATIENTS) OMIM:617301 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617301 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE HP:0000243 Trigonocephaly IEA IEA OMIM-CS:headandneckhead > TRIGONOCEPHALY OMIM:617301 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617301 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE HP:0005280 Depressed nasal bridge IEA IEA OMIM-CS:headandnecknose > DEPRESSED NASAL BRIDGE OMIM:617301 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617301 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE HP:0000463 Anteverted nares IEA IEA OMIM-CS:headandnecknose > UPTURNED NOSE OMIM:617301 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617301 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617301 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617301 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE HP:0003577 Congenital onset IEA IEA OMIM-CS:miscellaneous > ONSET IN UTERO OMIM:617301 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617301 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE HP:0001276 Hypertonia IEA IEA OMIM-CS:musclesofttissue > HYPERTONIA OMIM:617301 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617301 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:617301 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617301 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE HP:0002119 Ventriculomegaly IEA IEA OMIM-CS:neurologiccentralnervoussystem > DILATED VENTRICLES OMIM:617301 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617301 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE HP:0001298 Encephalopathy IEA IEA OMIM-CS:neurologiccentralnervoussystem > ENCEPHALOPATHY OMIM:617301 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617301 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE HP:0002267 Exaggerated startle response IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPEREKPLEXIA OMIM:617301 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617301 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE HP:0002079 Hypoplasia of the corpus callosum IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > THIN CORPUS CALLOSUM (IN SOME PATIENTS) OMIM:617301 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617301 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE HP:0002104 Apnea IEA IEA MODIFIER:RECURRENT;OMIM-CS:respiratory > APNEA, RECURRENT OMIM:617301 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617301 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE HP:0002804 Arthrogryposis multiplex congenita IEA IEA OMIM-CS:skeletal > ARTHROGRYPOSIS MULTIPLEX CONGENITA OMIM:617301 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617301 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE HP:0001388 Joint laxity IEA IEA OMIM-CS:skeletal > JOINT LAXITY OMIM:617301 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617301 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE HP:0001762 Talipes equinovarus IEA IEA OMIM-CS:skeletalfeet > CLUB FEET OMIM:617301 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617301 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE HP:0001760 Abnormality of the foot IEA IEA OMIM-CS:skeletalfeet > FOOT DEFORMITIES OMIM:617301 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617301 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE HP:0002987 Elbow flexion contracture IEA IEA OMIM-CS:skeletallimbs > ELBOW CONTRACTURES OMIM:617301 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617301 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE HP:0003273 Hip contracture IEA IEA OMIM-CS:skeletalpelvis > HIP CONTRACTURES OMIM:617301 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617301 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE HP:0002827 Hip dislocation IEA IEA OMIM-CS:skeletalpelvis > HIP DISLOCATION OMIM:617301 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608629 JOUBERT SYNDROME 3 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:608629 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616629 SENIOR-LOKEN SYNDROME 9 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:616629 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL HP:0002059 Cerebral atrophy IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY (IN ADULTHOOD) OMIM:248500 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL HP:0012448 Delayed myelination IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED MYELINATION OMIM:248500 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL HP:0002171 Gliosis IEA IEA OMIM-CS:neurologiccentralnervoussystem > GLIOSIS OMIM:248500 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:248500 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:151050 LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:151050 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616685 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:616685 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616685 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 HP:0003829 Incomplete penetrance IEA IEA OMIM-CS:miscellaneous > INCOMPLETE PENETRANCE OMIM:616685 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608091 JOUBERT SYNDROME 2 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:608091 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:306955 HETEROTAXY, VISCERAL, 1, X-LINKED HP:0011565 Common atrium IEA IEA OMIM-CS:cardiovascularheart > SINGLE ATRIUM OMIM:306955 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616739 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51 HP:0000252 Microcephaly IEA IEA OMIM-CS:headandneckhead > SMALL HEAD CIRCUMFERENCE OMIM:616739 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616739 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51 HP:0003593 Infantile onset IEA IEA OMIM-CS:miscellaneous > ONSET IN INFANCY OMIM:616739 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616739 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51 HP:0001270 Motor delay IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > DELAYED MOTOR DEVELOPMENT (IN SOME PATIENTS) OMIM:616739 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616739 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51 HP:0010864 Intellectual disability, severe IEA IEA OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION, SEVERE OMIM:616739 HPO:skoehler 13.07.2017 ..........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300942 CHROMOSOME XQ26.3 DUPLICATION SYNDROME HP:0002591 Polyphagia IEA IEA OMIM-CS:abdomengastrointestinal > INCREASED APPETITE OMIM:300942 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300942 CHROMOSOME XQ26.3 DUPLICATION SYNDROME HP:0001714 Ventricular hypertrophy IEA IEA OMIM-CS:cardiovascularheart > VENTRICULAR HYPERTROPHY, MILD (NOTED IN 1 PATIENT) OMIM:300942 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300942 CHROMOSOME XQ26.3 DUPLICATION SYNDROME HP:0010535 Sleep apnea IEA IEA OMIM-CS:respiratorynasopharynx > SLEEP APNEA OMIM:300942 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300942 CHROMOSOME XQ26.3 DUPLICATION SYNDROME HP:0025267 Snoring IEA IEA OMIM-CS:respiratorynasopharynx > SNORING OMIM:300942 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300942 CHROMOSOME XQ26.3 DUPLICATION SYNDROME HP:0000956 Acanthosis nigricans IEA IEA OMIM-CS:skinnailshairskin > ACANTHOSIS NIGRICANS OMIM:300942 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0011968 Feeding difficulties IEA IEA rare OMIM-CS:abdomengastrointestinal > FEEDING DIFFICULTIES (IN SOME PATIENTS) OMIM:617061 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0000400 Macrotia IEA IEA OMIM-CS:headandneckears > LARGE EARS OMIM:617061 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0000494 Downslanted palpebral fissures IEA IEA OMIM-CS:headandneckeyes > DOWNSLANTING PALPEBRAL FISSURES OMIM:617061 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0000664 Synophrys IEA IEA OMIM-CS:headandneckeyes > SYNOPHRYS OMIM:617061 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0000574 Thick eyebrow IEA IEA OMIM-CS:headandneckeyes > THICK EYEBROWS OMIM:617061 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0000582 Upslanted palpebral fissure IEA IEA OMIM-CS:headandneckeyes > UPSLANTING PALPEBRAL FISSURES OMIM:617061 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0000348 High forehead IEA IEA OMIM-CS:headandneckface > HIGH FOREHEAD OMIM:617061 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0000347 Micrognathia IEA IEA OMIM-CS:headandneckface > MICROGNATHIA OMIM:617061 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0000252 Microcephaly IEA IEA OMIM-CS:headandneckhead > MICROCEPHALY (IN MOST PATIENTS, UP TO -5.4 SD) OMIM:617061 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0012471 Thick vermilion border IEA IEA OMIM-CS:headandneckmouth > FULL LIPS OMIM:617061 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0000218 High palate IEA IEA OMIM-CS:headandneckmouth > HIGH PALATE OMIM:617061 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0003196 Short nose IEA IEA OMIM-CS:headandnecknose > SHORT NOSE OMIM:617061 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0000678 Dental crowding IEA IEA OMIM-CS:headandneckteeth > DENTAL CROWDING OMIM:617061 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0000668 Hypodontia IEA IEA OMIM-CS:headandneckteeth > HYPODONTIA OMIM:617061 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0002719 Recurrent infections IEA IEA rare OMIM-CS:immunology > RECURRENT INFECTIONS (IN SOME PATIENTS) OMIM:617061 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:617061 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0003812 Phenotypic variability IEA IEA OMIM-CS:miscellaneous > VARIABLE PHENOTYPE OMIM:617061 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0000718 Aggressive behavior IEA IEA OMIM-CS:neurologicbehavioralpsychiatricmanifestations > AGGRESSIVE BEHAVIOR OMIM:617061 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0007018 Attention deficit hyperactivity disorder IEA IEA OMIM-CS:neurologicbehavioralpsychiatricmanifestations > ATTENTION DEFICIT-HYPERACTIVITY DISORDER OMIM:617061 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0000722 Obsessive-compulsive behavior IEA IEA OMIM-CS:neurologicbehavioralpsychiatricmanifestations > OBSESSIVE-COMPULSIVE BEHAVIOR OMIM:617061 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0001270 Motor delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED MOTOR DEVELOPMENT, MILD OMIM:617061 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0000750 Delayed speech and language development IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED SPEECH OMIM:617061 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0002465 Poor speech IEA IEA OMIM-CS:neurologiccentralnervoussystem > POOR SPEECH OMIM:617061 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0001250 Seizures IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > SEIZURES (1 PATIENT) OMIM:617061 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0004691 2-3 toe syndactyly IEA IEA OMIM-CS:skeletalfeet > 2-3 TOE SYNDACTYLY OMIM:617061 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0001156 Brachydactyly IEA IEA OMIM-CS:skeletalhands > BRACHYDACTYLY OMIM:617061 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0030084 Clinodactyly IEA IEA OMIM-CS:skeletalhands > CLINODACTYLY OMIM:617061 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0001182 Tapered finger IEA IEA OMIM-CS:skeletalhands > TAPERING FINGERS OMIM:617061 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 HP:0002808 Kyphosis IEA IEA rare OMIM-CS:skeletalspine > KYPHOSIS (IN SOME PATIENTS) OMIM:617061 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:129100 EARS, ABILITY TO MOVE HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:129100 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:609965 DEAFNESS, AUTOSOMAL DOMINANT 53 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:609965 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617253 SECKEL SYNDROME 10 HP:0001397 Hepatic steatosis IEA IEA OMIM-CS:abdomenliver > FATTY LIVER OMIM:617253 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617253 SECKEL SYNDROME 10 HP:0001735 Acute pancreatitis IEA IEA OMIM-CS:abdomenpancreas > ACUTE PANCREATITIS (PATIENT A) OMIM:617253 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617253 SECKEL SYNDROME 10 HP:0001635 Congestive heart failure IEA IEA OMIM-CS:cardiovascularheart > HEART FAILURE (PATIENT A) OMIM:617253 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617253 SECKEL SYNDROME 10 HP:0001714 Ventricular hypertrophy IEA IEA OMIM-CS:cardiovascularheart > VENTRICULAR HYPERTROPHY (PATIENT A) OMIM:617253 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617253 SECKEL SYNDROME 10 HP:0004953 Dilatation of abdominal aortic IEA IEA OMIM-CS:cardiovascularvascular > ABDOMINAL AORTIC ANEURYSM (PATIENT A) OMIM:617253 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617253 SECKEL SYNDROME 10 HP:0000822 Hypertension IEA IEA OMIM-CS:cardiovascularvascular > HYPERTENSION (PATIENT A) OMIM:617253 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617253 SECKEL SYNDROME 10 HP:0008232 Elevated follicle stimulating hormone IEA IEA OMIM-CS:endocrinefeatures > ELEVATED FOLLICLE-STIMULATING HORMONE (FSH) OMIM:617253 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617253 SECKEL SYNDROME 10 HP:0011969 Elevated luteinizing hormone IEA IEA OMIM-CS:endocrinefeatures > ELEVATED LUTEINIZING HORMONE (LH) OMIM:617253 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617253 SECKEL SYNDROME 10 HP:0000833 Glucose intolerance IEA IEA OMIM-CS:endocrinefeatures > IMPAIRED GLUCOSE TOLERANCE OMIM:617253 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617253 SECKEL SYNDROME 10 HP:0000541 Retinal detachment IEA IEA OMIM-CS:headandneckeyes > RETINAL DETACHMENT, BILATERAL CONGENITAL (PATIENT A) OMIM:617253 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617253 SECKEL SYNDROME 10 HP:0000308 Microretrognathia IEA IEA OMIM-CS:headandneckface > MICRORETROGNATHIA OMIM:617253 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617253 SECKEL SYNDROME 10 HP:0000252 Microcephaly IEA IEA OMIM-CS:headandneckhead > MICROCEPHALY OMIM:617253 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617253 SECKEL SYNDROME 10 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617253 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617253 SECKEL SYNDROME 10 HP:0003076 Glycosuria IEA IEA OMIM-CS:laboratoryabnormalities > GLYCOSURIA OMIM:617253 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617253 SECKEL SYNDROME 10 HP:0010579 Cone-shaped epiphysis IEA IEA OMIM-CS:skeletallimbs > CONE-SHAPED EPIPHYSES (PATIENT A) OMIM:617253 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617253 SECKEL SYNDROME 10 HP:0003100 Slender long bone IEA IEA OMIM-CS:skeletallimbs > GRACILE LONG BONES (PATIENT A) OMIM:617253 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617253 SECKEL SYNDROME 10 HP:0003016 Metaphyseal widening IEA IEA OMIM-CS:skeletallimbs > WIDENED METAPHYSES (PATIENT A) OMIM:617253 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617253 SECKEL SYNDROME 10 HP:0000252 Microcephaly IEA IEA OMIM-CS:skeletalskull > MICROCEPHALY OMIM:617253 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617253 SECKEL SYNDROME 10 HP:0000956 Acanthosis nigricans IEA IEA OMIM-CS:skinnailshairskin > ACANTHOSIS NIGRICANS OMIM:617253 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617253 SECKEL SYNDROME 10 HP:0010609 Skin tags IEA IEA OMIM-CS:skinnailshairskin > SKIN TAGS OMIM:617253 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614230 CHROMOSOME 8Q21.11 DELETION SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:614230 HPO:skoehler 13.07.2017 ...........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617143 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC HP:0002015 Dysphagia IEA IEA OMIM-CS:abdomengastrointestinal > DYSPHAGIA OMIM:617143 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617143 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC HP:0011968 Feeding difficulties IEA IEA OMIM-CS:abdomengastrointestinal > POOR FEEDING OMIM:617143 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617143 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC HP:0002033 Poor suck IEA IEA OMIM-CS:abdomengastrointestinal > POOR SUCKING OMIM:617143 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617143 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC HP:0002015 Dysphagia IEA IEA OMIM-CS:abdomengastrointestinal > POOR SWALLOWING OMIM:617143 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617143 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC HP:0000597 Ophthalmoparesis IEA IEA OMIM-CS:headandneckeyes > OPHTHALMOPARESIS OMIM:617143 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617143 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC HP:0000508 Ptosis IEA IEA OMIM-CS:headandneckeyes > PTOSIS OMIM:617143 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617143 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC HP:0010628 Facial palsy IEA IEA OMIM-CS:headandneckface > FACIAL WEAKNESS OMIM:617143 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617143 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC HP:0000467 Neck muscle weakness IEA IEA OMIM-CS:headandneckneck > NECK MUSCLE WEAKNESS OMIM:617143 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617143 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617143 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617143 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC HP:0003828 Variable expressivity IEA IEA OMIM-CS:miscellaneous > VARIABLE SEVERITY OMIM:617143 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617143 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC HP:0001283 Bulbar palsy IEA IEA OMIM-CS:musclesofttissue > BULBAR MUSCLE WEAKNESS OMIM:617143 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617143 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:617143 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617143 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC HP:0001324 Muscle weakness IEA IEA OMIM-CS:musclesofttissue > MUSCLE WEAKNESS OMIM:617143 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617143 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC HP:0100543 Cognitive impairment IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > COGNITIVE IMPAIRMENT (IN SOME PATIENTS) OMIM:617143 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617143 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC HP:0001561 Polyhydramnios IEA IEA rare OMIM-CS:prenatalmanifestationsamnioticfluid > HYDRAMNIOS (IN SOME PATIENTS) OMIM:617143 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617143 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC HP:0010307 Stridor IEA IEA OMIM-CS:respiratory > STRIDOR OMIM:617143 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617143 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC HP:0002804 Arthrogryposis multiplex congenita IEA IEA rare OMIM-CS:skeletal > ARTHROGRYPOSIS (IN SOME PATIENTS) OMIM:617143 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617143 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC HP:0002808 Kyphosis IEA IEA OMIM-CS:skeletalspine > KYPHOSIS OMIM:617143 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617143 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC HP:0002650 Scoliosis IEA IEA OMIM-CS:skeletalspine > SCOLIOSIS OMIM:617143 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617143 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC HP:0001618 Dysphonia IEA IEA OMIM-CS:voice > DYSPHONIA OMIM:617143 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617052 BONE MARROW FAILURE SYNDROME 3 HP:0004322 Short stature IEA IEA OMIM-CS:growthheight > SHORT STATURE OMIM:617052 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617052 BONE MARROW FAILURE SYNDROME 3 HP:0001511 Intrauterine growth retardation IEA IEA OMIM-CS:growthother > INTRAUTERINE GROWTH RETARDATION OMIM:617052 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617052 BONE MARROW FAILURE SYNDROME 3 HP:0000556 Retinal dystrophy IEA IEA rare OMIM-CS:headandneckeyes > RETINAL DYSTROPHY (1 PATIENT) OMIM:617052 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617052 BONE MARROW FAILURE SYNDROME 3 HP:0000252 Microcephaly IEA IEA rare OMIM-CS:headandneckhead > MICROCEPHALY (IN SOME PATIENTS) OMIM:617052 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617052 BONE MARROW FAILURE SYNDROME 3 HP:0000668 Hypodontia IEA IEA rare OMIM-CS:headandneckteeth > HYPODONTIA (1 PATIENT) OMIM:617052 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617052 BONE MARROW FAILURE SYNDROME 3 HP:0005528 Bone marrow hypocellularity IEA IEA OMIM-CS:hematology > BONE MARROW FAILURE OMIM:617052 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617052 BONE MARROW FAILURE SYNDROME 3 HP:0001876 Pancytopenia IEA IEA OMIM-CS:hematology > PANCYTOPENIA OMIM:617052 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617052 BONE MARROW FAILURE SYNDROME 3 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617052 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617052 BONE MARROW FAILURE SYNDROME 3 HP:0004808 Acute myeloid leukemia IEA IEA rare OMIM-CS:neoplasia > ACUTE MYELOID LEUKEMIA (1 PATIENT) OMIM:617052 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617052 BONE MARROW FAILURE SYNDROME 3 HP:0001000 Abnormality of skin pigmentation IEA IEA OMIM-CS:skinnailshairskin > ABNORMAL SKIN PIGMENTATION OMIM:617052 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617052 BONE MARROW FAILURE SYNDROME 3 HP:0000962 Hyperkeratosis IEA IEA OMIM-CS:skinnailshairskin > HYPERKERATOSIS OMIM:617052 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:400004 RETINITIS PIGMENTOSA, Y-LINKED HP:0000510 Rod-cone dystrophy IEA IEA OMIM-CS:headandneckeyes > RETINITIS PIGMENTOSA OMIM:400004 HPO:skoehler 13.07.2017 .. filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:607016 SCHEIE SYNDROME HP:0000943 Dysostosis multiplex IEA IEA rare OMIM-CS:skeletal > DYSOSTOSIS MULTIPLEX, MILD (IN SOME PATIENTS) OMIM:607016 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:607016 SCHEIE SYNDROME HP:0012185 Constrictive median neuropathy IEA IEA OMIM-CS:skeletalhands > CARPAL TUNNEL SYNDROME OMIM:607016 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:176690 PROGEROID SHORT STATURE WITH PIGMENTED NEVI HP:0008209 Premature ovarian insufficiency IEA IEA OMIM-CS:endocrinefeatures > PREMATURE MENOPAUSE OMIM:176690 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615630 SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY HP:0002119 Ventriculomegaly IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > VENTRICULOMEGALY, MILD (RARE) OMIM:615630 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617102 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY HP:0004322 Short stature IEA IEA OMIM-CS:growthheight > SHORT STATURE OMIM:617102 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617102 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY HP:0000369 Low-set ears IEA IEA OMIM-CS:headandneckears > LOW-SET EARS OMIM:617102 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617102 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY HP:0000540 Hypermetropia IEA IEA OMIM-CS:headandneckeyes > HYPERMETROPIA OMIM:617102 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617102 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY HP:0000506 Telecanthus IEA IEA OMIM-CS:headandneckeyes > TELECANTHUS OMIM:617102 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617102 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY HP:0000293 Full cheeks IEA IEA OMIM-CS:headandneckface > FULL CHEEKS OMIM:617102 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617102 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY HP:0011800 Midface retrusion IEA IEA OMIM-CS:headandneckface > MIDFACE HYPOPLASIA OMIM:617102 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617102 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY HP:0000348 High forehead IEA IEA OMIM-CS:headandneckface > TALL FOREHEAD OMIM:617102 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617102 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY HP:0000268 Dolichocephaly IEA IEA OMIM-CS:headandneckhead > DOLICHOCEPHALY OMIM:617102 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617102 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY HP:0000431 Wide nasal bridge IEA IEA OMIM-CS:headandnecknose > BROAD NASAL BRIDGE OMIM:617102 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617102 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY HP:0005280 Depressed nasal bridge IEA IEA OMIM-CS:headandnecknose > DEPRESSED NASAL BRIDGE OMIM:617102 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617102 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY HP:0000670 Carious teeth IEA IEA OMIM-CS:headandneckteeth > CARIOUS TEETH OMIM:617102 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617102 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617102 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617102 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY HP:0002079 Hypoplasia of the corpus callosum IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOPLASTIC CORPUS CALLOSUM OMIM:617102 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617102 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY HP:0001270 Motor delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > MOTOR DELAY OMIM:617102 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617102 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY HP:0002098 Respiratory distress IEA IEA OMIM-CS:respiratorylung > RESPIRATORY DISTRESS OMIM:617102 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617102 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY HP:0001156 Brachydactyly IEA IEA OMIM-CS:skeletalfeet > BRACHYDACTYLY OMIM:617102 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617102 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY HP:0001852 Sandal gap IEA IEA OMIM-CS:skeletalfeet > SANDAL GAP OMIM:617102 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617102 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY HP:0010743 Short metatarsal IEA IEA OMIM-CS:skeletalfeet > SHORT METATARSALS OMIM:617102 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617102 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY HP:0009803 Short phalanx of finger IEA IEA OMIM-CS:skeletalfeet > SHORT PHALANGES OMIM:617102 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617102 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY HP:0001156 Brachydactyly IEA IEA OMIM-CS:skeletalhands > BRACHYDACTYLY OMIM:617102 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617102 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY HP:0010230 Cone-shaped epiphyses of the phalanges of the hand IEA IEA OMIM-CS:skeletalhands > CONE-SHAPED EPIPHYSES OF PHALANGES OMIM:617102 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617102 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY HP:0009882 Short distal phalanx of finger IEA IEA OMIM-CS:skeletalhands > HYPOPLASTIC DISTAL PHALANGES OMIM:617102 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617102 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY HP:0100259 Postaxial polydactyly IEA IEA rare OMIM-CS:skeletalhands > POSTAXIAL POLYDACTYLY (IN SOME PATIENTS) OMIM:617102 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617102 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY HP:0010049 Short metacarpal IEA IEA OMIM-CS:skeletalhands > SHORT METACARPALS OMIM:617102 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617102 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY HP:0009826 Limb undergrowth IEA IEA OMIM-CS:skeletallimbs > SHORT LIMBS OMIM:617102 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617102 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY HP:0003180 Flat acetabular roof IEA IEA OMIM-CS:skeletalpelvis > FLAT ACETABULAR ROOF OMIM:617102 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616449 BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:616449 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615102 TYSHCHENKO SYNDROME HP:0001511 Intrauterine growth retardation IEA IEA OMIM-CS:growthother > IUGR OMIM:615102 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614500 CONE-ROD DYSTROPHY 16 HP:0000518 Cataract IEA IEA OMIM-CS:headandneckeyes > CATARACTS OMIM:614500 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:605021 MYOCLONIC EPILEPSY, FAMILIAL INFANTILE HP:0001260 Dysarthria IEA IEA OMIM-CS:neurologiccentralnervoussystem > DYSARTHRIA, MILD (1 FAMILY) OMIM:605021 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300114 MENTAL RETARDATION, X-LINKED 49 HP:0000486 Strabismus IEA IEA rare OMIM-CS:headandneckeyes > STRABISMUS (IN SOME PATIENTS) OMIM:300114 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300114 MENTAL RETARDATION, X-LINKED 49 HP:0000280 Coarse facial features IEA IEA OMIM-CS:headandneckface > COARSE FACIAL FEATURES (1 FAMILY) OMIM:300114 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300114 MENTAL RETARDATION, X-LINKED 49 HP:0001419 X-linked recessive inheritance IEA IEA OMIM-CS:inheritance > X-LINKED RECESSIVE OMIM:300114 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300114 MENTAL RETARDATION, X-LINKED 49 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:300114 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300114 MENTAL RETARDATION, X-LINKED 49 HP:0000708 Behavioral abnormality IEA IEA rare OMIM-CS:neurologicbehavioralpsychiatricmanifestations > BEHAVIORAL PROBLEMS (IN SOME PATIENTS) OMIM:300114 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300114 MENTAL RETARDATION, X-LINKED 49 HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:300114 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300114 MENTAL RETARDATION, X-LINKED 49 HP:0002650 Scoliosis IEA IEA rare OMIM-CS:skeletalspine > SCOLIOSIS (IN SOME PATIENTS) OMIM:300114 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614325 PITT-HOPKINS-LIKE SYNDROME 2 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:614325 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613458 CHROMOSOME 16P13.3 DUPLICATION SYNDROME HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DEVELOPMENTAL DELAY, MILD TO MODERATE OMIM:613458 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:259050 PRIMROSE SYNDROME HP:0000851 Congenital hypothyroidism IEA IEA rare OMIM-CS:endocrinefeatures > CONGENITAL HYPOTHYROIDISM (IN SOME PATIENTS) OMIM:259050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:259050 PRIMROSE SYNDROME HP:0000815 Hypergonadotropic hypogonadism IEA IEA rare OMIM-CS:endocrinefeatures > HYPERGONADOTROPIC HYPOGONADISM (RARE) OMIM:259050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:259050 PRIMROSE SYNDROME HP:0040309 Increased size of the mandible IEA IEA OMIM-CS:headandneckface > LARGE JAW OMIM:259050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:259050 PRIMROSE SYNDROME HP:0002714 Downturned corners of mouth IEA IEA OMIM-CS:headandneckmouth > DOWNTURNED CORNERS OF MOUTH OMIM:259050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:259050 PRIMROSE SYNDROME HP:0000160 Narrow mouth IEA IEA OMIM-CS:headandneckmouth > SMALL MOUTH OMIM:259050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:259050 PRIMROSE SYNDROME HP:0000711 Restlessness IEA IEA rare OMIM-CS:neurologicbehavioralpsychiatricmanifestations > RESTLESSNESS (RARE) OMIM:259050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:259050 PRIMROSE SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:259050 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:259050 PRIMROSE SYNDROME HP:0002209 Sparse scalp hair IEA IEA OMIM-CS:skinnailshairhair > SPARSE SCALP HAIR OMIM:259050 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614350 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 HP:0003829 Incomplete penetrance IEA IEA OMIM-CS:miscellaneous > INCOMPLETE PENETRANCE OMIM:614350 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614035 DEAFNESS, AUTOSOMAL RECESSIVE 29 HP:0000407 Sensorineural hearing impairment IEA IEA OMIM-CS:headandneckears > SENSORINEURAL HEARING LOSS, SEVERE TO PROFOUND OMIM:614035 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:249620 OHDO SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:249620 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:194350 WT LIMB-BLOOD SYNDROME HP:0040012 Chromosome breakage IEA IEA NOT NOT OMIM-CS:laboratoryabnormalities > NO CHROMOSOME BREAKAGE OMIM:194350 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300803 MENTAL RETARDATION, X-LINKED 97 HP:0002342 Intellectual disability, moderate IEA IEA OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION, MODERATE OMIM:300803 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:156610 SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 HP:0000767 Pectus excavatum IEA IEA rare OMIM-CS:chestexternalfeatures > PECTUS EXCAVATUM, MILD (RARE) OMIM:156610 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:156610 SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 HP:0001290 Generalized hypotonia IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA, MILD (RARE) OMIM:156610 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:156610 SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 HP:0001249 Intellectual disability IEA IEA OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION, MILD TO PROFOUND OMIM:156610 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613255 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 HP:0001635 Congestive heart failure IEA IEA OMIM-CS:cardiovascularheart > CONGESTIVE HEART FAILURE OMIM:613255 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613255 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 HP:0006685 Endocardial fibrosis IEA IEA OMIM-CS:cardiovascularheart > ENDOCARDIAL FIBROSIS OMIM:613255 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613255 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:613255 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:609128 ARTHROGRYPOSIS, DISTAL, TYPE 4 HP:0000473 Torticollis IEA IEA OMIM-CS:headandneckneck > TORTICOLLIS OMIM:609128 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:609128 ARTHROGRYPOSIS, DISTAL, TYPE 4 HP:0005280 Depressed nasal bridge IEA IEA OMIM-CS:headandnecknose > LOW NASAL BRIDGE OMIM:609128 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:609128 ARTHROGRYPOSIS, DISTAL, TYPE 4 HP:0000267 Cranial asymmetry IEA IEA OMIM-CS:skeletalskull > CRANIAL ASYMMETRY OMIM:609128 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:609128 ARTHROGRYPOSIS, DISTAL, TYPE 4 HP:0004626 Lumbar scoliosis IEA IEA OMIM-CS:skeletalspine > LUMBAR SCOLIOSIS OMIM:609128 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:609128 ARTHROGRYPOSIS, DISTAL, TYPE 4 HP:0002162 Low posterior hairline IEA IEA OMIM-CS:skinnailshairhair > LOW POSTERIOR HAIRLINE OMIM:609128 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615546 VAN MALDERGEM SYNDROME 2 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:615546 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613509 CHROMOSOME 4Q21 DELETION SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:613509 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616657 SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY HP:0000253 Progressive microcephaly IEA IEA OMIM-CS:headandneckhead > MICROCEPHALY, POSTNATAL, PROGRESSIVE (UP TO -4SD) OMIM:616657 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616657 SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:616657 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616657 SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY HP:0003577 Congenital onset IEA IEA OMIM-CS:miscellaneous > ONSET AT BIRTH OMIM:616657 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616657 SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:616657 HPO:skoehler 13.07.2017 .......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:200950 ACID PHOSPHATASE DEFICIENCY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neuro > HYPOTONIA OMIM:200950 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614487 SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE HP:0100543 Cognitive impairment IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > COGNITIVE IMPAIRMENT, MILD (IN SOME PATIENTS) OMIM:614487 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616777 SECKEL SYNDROME 9 HP:0001631 Atrial septal defect IEA IEA OMIM-CS:cardiovascularheart > ATRIAL SEPTAL DEFECT OMIM:616777 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616777 SECKEL SYNDROME 9 HP:0001629 Ventricular septal defect IEA IEA OMIM-CS:cardiovascularheart > VENTRICULAR SEPTAL DEFECT OMIM:616777 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616777 SECKEL SYNDROME 9 HP:0004971 Pulmonary artery hypoplasia IEA IEA rare OMIM-CS:cardiovascularvascular > PULMONARY ARTERY HYPOPLASIA, SEVERE (IN SOME PATIENTS) OMIM:616777 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616777 SECKEL SYNDROME 9 HP:0000776 Congenital diaphragmatic hernia IEA IEA OMIM-CS:chestdiaphragm > DIAPHRAGMATIC HERNIA OMIM:616777 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616777 SECKEL SYNDROME 9 HP:0008665 Clitoral hypertrophy IEA IEA OMIM-CS:genitourinaryexternalgenitaliafemale > CLITORAL HYPERTROPHY OMIM:616777 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616777 SECKEL SYNDROME 9 HP:0000062 Ambiguous genitalia IEA IEA OMIM-CS:genitourinaryexternalgenitaliamale > AMBIGUOUS GENITALIA OMIM:616777 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616777 SECKEL SYNDROME 9 HP:0000010 Recurrent urinary tract infections IEA IEA OMIM-CS:genitourinarykidneys > RECURRENT URINARY TRACT INFECTIONS OMIM:616777 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616777 SECKEL SYNDROME 9 HP:0001518 Small for gestational age IEA IEA OMIM-CS:growthweight > LOW BIRTH WEIGHT OMIM:616777 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616777 SECKEL SYNDROME 9 HP:0000444 Convex nasal ridge IEA IEA OMIM-CS:headandnecknose > BEAKED NOSE OMIM:616777 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616777 SECKEL SYNDROME 9 HP:0001561 Polyhydramnios IEA IEA OMIM-CS:prenatalmanifestationsamnioticfluid > POLYHYDRAMNIOS OMIM:616777 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616777 SECKEL SYNDROME 9 HP:0001558 Decreased fetal movement IEA IEA OMIM-CS:prenatalmanifestationsmovement > DECREASED FETAL MOVEMENTS OMIM:616777 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616777 SECKEL SYNDROME 9 HP:0002099 Asthma IEA IEA rare OMIM-CS:respiratorylung > ASTHMA (RARE) OMIM:616777 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616777 SECKEL SYNDROME 9 HP:0001762 Talipes equinovarus IEA IEA OMIM-CS:skeletalfeet > CLUB FEET OMIM:616777 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616777 SECKEL SYNDROME 9 HP:0000998 Hypertrichosis IEA IEA OMIM-CS:skinnailshairhair > HYPERTRICHOSIS OMIM:616777 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608220 SPASTIC PARAPLEGIA 25, AUTOSOMAL RECESSIVE HP:0030833 Neck pain IEA IEA OMIM-CS:headandneckneck > NECK PAIN OMIM:608220 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608220 SPASTIC PARAPLEGIA 25, AUTOSOMAL RECESSIVE HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:608220 HPO:skoehler 13.07.2017 .......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616534 THYROID CANCER, NONMEDULLARY, 4 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:616534 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616534 THYROID CANCER, NONMEDULLARY, 4 HP:0040198 Non-medullary thyroid carcinoma IEA IEA OMIM-CS:neoplasia > NONMEDULLARY THYROID CARCINOMA (PAPILLARY, FOLLICULAR, OR TALL CELL VARIANTS) OMIM:616534 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:241760 HYPOSPADIAS-MENTAL RETARDATION SYNDROME HP:0030817 Beaked nails IEA IEA OMIM-CS:nails > BEAKED NAILS OMIM:241760 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615228 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 HP:0001321 Cerebellar hypoplasia IEA IEA OMIM-CS:neurologiccentralnervoussystem > SMALL CEREBELLUM OMIM:615228 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615228 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 HP:0025430 High-pitched cry IEA IEA OMIM-CS:voice > HIGH-PITCHED CRY OMIM:615228 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:302060 BARTH SYNDROME HP:0001992 Organic aciduria IEA IEA rare OMIM-CS:laboratoryabnormalities > ORGANIC ACIDURIA, MILD (IN SOME PATIENTS) OMIM:302060 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615028 EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE HP:0025092 Epidermal acanthosis IEA IEA OMIM-CS:skinnailshairskinhistology > ACANTHOSIS, MILD OMIM:615028 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617088 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY HP:0002240 Hepatomegaly IEA IEA OMIM-CS:abdomenliver > HEPATOMEGALY (IN 1 PATIENT) OMIM:617088 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617088 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY HP:0001744 Splenomegaly IEA IEA OMIM-CS:abdomenspleen > SPLENOMEGALY (IN 1 PATIENT) OMIM:617088 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617088 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY HP:0006695 Atrioventricular canal defect IEA IEA OMIM-CS:cardiovascularheart > ATRIOVENTRICULAR SEPTAL DEFECT (IN 1 PATIENT) OMIM:617088 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617088 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY HP:0000888 Horizontal ribs IEA IEA OMIM-CS:chestribssternumclaviclesandscapulae > HORIZONTAL RIBS OMIM:617088 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617088 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY HP:0000773 Short ribs IEA IEA OMIM-CS:chestribssternumclaviclesandscapulae > SHORT RIBS OMIM:617088 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617088 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY HP:0004322 Short stature IEA IEA OMIM-CS:growthheight > SHORT STATURE OMIM:617088 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617088 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY HP:0000369 Low-set ears IEA IEA OMIM-CS:headandneckears > LOW-SET EARS OMIM:617088 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617088 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY HP:0000494 Downslanted palpebral fissures IEA IEA OMIM-CS:headandneckeyes > DOWNSLANTING PALPEBRAL FISSURES OMIM:617088 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617088 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY HP:0000286 Epicanthus IEA IEA OMIM-CS:headandneckeyes > EPICANTHAL FOLDS OMIM:617088 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617088 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY HP:0005280 Depressed nasal bridge IEA IEA OMIM-CS:headandnecknose > DEPRESSED NASAL BRIDGE OMIM:617088 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617088 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617088 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617088 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY HP:0001561 Polyhydramnios IEA IEA OMIM-CS:prenatalmanifestationsamnioticfluid > POLYHYDRAMNIOS OMIM:617088 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617088 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY HP:0001162 Postaxial hand polydactyly IEA IEA OMIM-CS:skeletalfeet > POLYDACTYLY, POSTAXIAL OMIM:617088 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617088 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY HP:0001162 Postaxial hand polydactyly IEA IEA OMIM-CS:skeletalhands > POLYDACTYLY, POSTAXIAL OMIM:617088 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616819 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA HP:0000369 Low-set ears IEA IEA OMIM-CS:headandneckears > LOW-SET EARS OMIM:616819 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616819 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA HP:0000358 Posteriorly rotated ears IEA IEA OMIM-CS:headandneckears > POSTERIORLY ROTATED EARS OMIM:616819 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616819 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA HP:0001251 Ataxia IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR ATAXIA OMIM:616819 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616819 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA HP:0001321 Cerebellar hypoplasia IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR HYPOPLASIA OMIM:616819 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616819 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE OMIM:616819 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616819 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA HP:0001249 Intellectual disability IEA IEA OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION OMIM:616819 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:275100 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:275100 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:237100 HYMEN, IMPERFORATE HP:0030711 Hydrocolpos IEA IEA OMIM-CS:gu > HYDROCOLPOS OMIM:237100 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615510 ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME HP:0001290 Generalized hypotonia IEA IEA rare OMIM-CS:musclesofttissue > HYPOTONIA (IN SOME PATIENTS) OMIM:615510 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613943 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8 HP:0025092 Epidermal acanthosis IEA IEA OMIM-CS:skinnailshairskinhistology > ACANTHOSIS OMIM:613943 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613943 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8 HP:0025114 Hypergranulosis IEA IEA OMIM-CS:skinnailshairskinhistology > HYPERGRANULOSIS OMIM:613943 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617068 PORTAL HYPERTENSION, NONCIRRHOTIC HP:0002240 Hepatomegaly IEA IEA OMIM-CS:abdomenliver > HEPATOMEGALY OMIM:617068 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617068 PORTAL HYPERTENSION, NONCIRRHOTIC HP:0001409 Portal hypertension IEA IEA OMIM-CS:abdomenliver > PORTAL HYPERTENSION OMIM:617068 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617068 PORTAL HYPERTENSION, NONCIRRHOTIC HP:0001744 Splenomegaly IEA IEA OMIM-CS:abdomenspleen > SPLENOMEGALY OMIM:617068 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617068 PORTAL HYPERTENSION, NONCIRRHOTIC HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617068 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617068 PORTAL HYPERTENSION, NONCIRRHOTIC HP:0002910 Elevated hepatic transaminases IEA IEA NOT NOT OMIM-CS:laboratoryabnormalities > NORMAL LIVER ENZYMES OMIM:617068 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:500002 MITOCHONDRIAL MYOPATHY WITH DIABETES HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:500002 HPO:skoehler 13.07.2017 .. ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604314 BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND MENTAL RETARDATION HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:604314 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616541 SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION HP:0001956 Truncal obesity IEA IEA rare OMIM-CS:growthother > TRUNCAL OBESITY, MILD (IN SOME PATIENTS) OMIM:616541 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616541 SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:616541 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:259780 OTOONYCHOPERONEAL SYNDROME HP:0006587 Straight clavicles IEA IEA rare OMIM-CS:chestribssternumclaviclesandscapulae > STRAIGHT CLAVICLES (IN SOME PATIENTS) OMIM:259780 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:259780 OTOONYCHOPERONEAL SYNDROME HP:0000047 Hypospadias IEA IEA OMIM-CS:genitourinaryexternalgenitaliamale > HYPOSPADIAS (IN 1 PATIENT) OMIM:259780 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:259780 OTOONYCHOPERONEAL SYNDROME HP:0000400 Macrotia IEA IEA OMIM-CS:headandneckears > LARGE EARS OMIM:259780 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:259780 OTOONYCHOPERONEAL SYNDROME HP:0000369 Low-set ears IEA IEA OMIM-CS:headandneckears > LOW-SET EARS OMIM:259780 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:259780 OTOONYCHOPERONEAL SYNDROME HP:0000358 Posteriorly rotated ears IEA IEA OMIM-CS:headandneckears > POSTERIORLY ROTATED EARS OMIM:259780 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:259780 OTOONYCHOPERONEAL SYNDROME HP:0011247 Prominent superior crus of antihelix IEA IEA OMIM-CS:headandneckears > PROMINENT SUPERIOR CRUS OF ANTIHELIX OMIM:259780 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:259780 OTOONYCHOPERONEAL SYNDROME HP:0000268 Dolichocephaly IEA IEA OMIM-CS:skeletalskull > DOLICHOCEPHALY OMIM:259780 HPO:skoehler 13.07.2017 ............filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611451 DEAFNESS, AUTOSOMAL RECESSIVE 63 HP:0000512 Abnormal electroretinogram IEA IEA NOT NOT OMIM-CS:headandneckeyes > NORMAL ELECTRORETINOGRAM OMIM:611451 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611451 DEAFNESS, AUTOSOMAL RECESSIVE 63 HP:0003577 Congenital onset IEA IEA OMIM-CS:miscellaneous > CONGENITAL ONSET OMIM:611451 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:115150 CARDIOFACIOCUTANEOUS SYNDROME 1 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:115150 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614303 EDICT SYNDROME HP:0000563 Keratoconus IEA IEA rare OMIM-CS:headandneckeyes > KERATOCONUS, SEVERE ANTERIOR (IN SOME PATIENTS) OMIM:614303 HPO:skoehler 13.07.2017 .......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254400 MYCOSIS FUNGOIDES HP:0003765 Psoriasiform dermatitis IEA IEA OMIM-CS:skin > PSORIASIFORM DERMATITIS OMIM:254400 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612313 GLASS SYNDROME HP:0000460 Narrow nose IEA IEA OMIM-CS:headandnecknose > THIN NOSE OMIM:612313 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617276 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 HP:0000817 Poor eye contact IEA IEA OMIM-CS:headandneckeyes > POOR EYE CONTACT OMIM:617276 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617276 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 HP:0000510 Rod-cone dystrophy IEA IEA OMIM-CS:headandneckeyes > RETINITIS PIGMENTOSA (IN 1 FAMILY) OMIM:617276 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617276 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 HP:0000252 Microcephaly IEA IEA rare OMIM-CS:headandneckhead > MICROCEPHALY (IN SOME PATIENTS) OMIM:617276 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617276 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617276 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617276 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:617276 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617276 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 HP:0001272 Cerebellar atrophy IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR ATROPHY (IN SOME PATIENTS) OMIM:617276 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617276 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 HP:0002059 Cerebral atrophy IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY (IN SOME PATIENTS) OMIM:617276 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617276 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE TO PROFOUND OMIM:617276 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617276 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 HP:0100660 Dyskinesia IEA IEA OMIM-CS:neurologiccentralnervoussystem > DYSKINESIAS OMIM:617276 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617276 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 HP:0200134 Epileptic encephalopathy IEA IEA OMIM-CS:neurologiccentralnervoussystem > EPILEPTIC ENCEPHALOPATHY OMIM:617276 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617276 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 HP:0002521 Hypsarrhythmia IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > HYPSARRHYTHMIA (IN SOME PATIENTS) OMIM:617276 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617276 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 HP:0001344 Absent speech IEA IEA OMIM-CS:neurologiccentralnervoussystem > LACK OF SPEECH OMIM:617276 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617276 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 HP:0001250 Seizures IEA IEA MODIFIER:REFRACTORY;OMIM-CS:neurologiccentralnervoussystem > SEIZURES, REFRACTORY OMIM:617276 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617276 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 HP:0002133 Status epilepticus IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > STATUS EPILEPTICUS (IN SOME PATIENTS) OMIM:617276 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617276 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 HP:0002079 Hypoplasia of the corpus callosum IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > THIN CORPUS CALLOSUM (IN SOME PATIENTS) OMIM:617276 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617047 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 HP:0005110 Atrial fibrillation IEA IEA rare OMIM-CS:cardiovascularheart > ATRIAL FIBRILLATION (IN SOME PATIENTS) OMIM:617047 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617047 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 HP:0001635 Congestive heart failure IEA IEA OMIM-CS:cardiovascularheart > HEART FAILURE OMIM:617047 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617047 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 HP:0001653 Mitral regurgitation IEA IEA rare OMIM-CS:cardiovascularheart > MITRAL REGURGITATION (IN SOME PATIENTS) OMIM:617047 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617047 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:617047 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617047 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 HP:0002094 Dyspnea IEA IEA OMIM-CS:respiratorylung > DYSPNEA OMIM:617047 HPO:skoehler 13.07.2017 .......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED HP:0002583 Colitis IEA IEA OMIM-CS:abdomengastrointestinal > COLITIS OMIM:301220 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED HP:0002014 Diarrhea IEA IEA OMIM-CS:abdomengastrointestinal > DIARRHEA OMIM:301220 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED HP:0000559 Corneal scarring IEA IEA OMIM-CS:headandneckeyes > CORNEAL SCARRING OMIM:301220 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED HP:0011229 Broad eyebrow IEA IEA OMIM-CS:headandneckeyes > FLARED EYEBROWS OMIM:301220 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED HP:0000613 Photophobia IEA IEA OMIM-CS:headandneckeyes > PHOTOPHOBIA OMIM:301220 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED HP:0000505 Visual impairment IEA IEA OMIM-CS:headandneckeyes > POOR VISION OMIM:301220 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED HP:0001419 X-linked recessive inheritance IEA IEA OMIM-CS:inheritance > X-LINKED RECESSIVE OMIM:301220 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED HP:0001249 Intellectual disability IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY (IN SOME PATIENTS) OMIM:301220 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED HP:0000962 Hyperkeratosis IEA IEA OMIM-CS:skinnailshairskin > HYPERKERATOSIS OMIM:301220 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED HP:0000966 Hypohidrosis IEA IEA OMIM-CS:skinnailshairskin > HYPOHIDROSIS OMIM:301220 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615352 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 HP:0003828 Variable expressivity IEA IEA OMIM-CS:miscellaneous > VARIABLE SEVERITY OMIM:615352 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615352 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:615352 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615352 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 HP:0001270 Motor delay IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > DELAYED MOTOR DEVELOPMENT (IN SOME PATIENTS) OMIM:615352 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616462 ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE HP:0011800 Midface retrusion IEA IEA OMIM-CS:headandneckface > MIDFACE HYPOPLASIA, MILD TO SEVERE OMIM:616462 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:130950 ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA, MILD OMIM:130950 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:225740 ENCEPHALOPATHY, AXONAL, WITH NECROTIZING MYOPATHY, CARDIOMYOPATHY, AND CATARACTS HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neuro > HYPOTONIA OMIM:225740 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:136300 FLYNN-AIRD SYNDROME HP:0009830 Peripheral neuropathy IEA IEA OMIM-CS:neuro > PERIPHERAL NEURITIS OMIM:136300 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617054 STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET HP:0002015 Dysphagia IEA IEA OMIM-CS:abdomengastrointestinal > DYSPHAGIA OMIM:617054 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617054 STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET HP:0012179 Craniofacial dystonia IEA IEA OMIM-CS:headandneckface > FACIAL DYSTONIA OMIM:617054 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617054 STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET HP:0002307 Drooling IEA IEA OMIM-CS:headandneckmouth > DROOLING OMIM:617054 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617054 STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET HP:0003781 Excessive salivation IEA IEA OMIM-CS:headandneckmouth > HYPERSALIVATION OMIM:617054 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617054 STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617054 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617054 STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET HP:0003676 Progressive IEA IEA OMIM-CS:miscellaneous > PROGRESSIVE DISORDER OMIM:617054 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617054 STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET HP:0001276 Hypertonia IEA IEA OMIM-CS:musclesofttissue > INCREASED MUSCLE TONE OMIM:617054 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617054 STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET HP:0002376 Developmental regression IEA IEA OMIM-CS:neurologiccentralnervoussystem > DEVELOPMENTAL REGRESSION OMIM:617054 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617054 STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET HP:0001332 Dystonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > DYSTONIA OMIM:617054 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617054 STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET HP:0002317 Unsteady gait IEA IEA OMIM-CS:neurologiccentralnervoussystem > GAIT INSTABILITY OMIM:617054 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617054 STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET HP:0001347 Hyperreflexia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPERREFLEXIA OMIM:617054 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617054 STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET HP:0006957 Loss of ability to walk IEA IEA OMIM-CS:neurologiccentralnervoussystem > LOSS OF ABILITY TO WALK OMIM:617054 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617054 STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET HP:0000750 Delayed speech and language development IEA IEA OMIM-CS:neurologiccentralnervoussystem > SPEECH DIFFICULTIES OMIM:617054 HPO:skoehler 13.07.2017 ..........filter this Wed Sep 20 00:00:00 CEST 2017 OMIM:242850 IMMUNE DEFICIENCY DISEASE HP:0005374 Cellular immunodeficiency TAS TAS OMIM:242850 HPO:probinson 2017-09-20 ...........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601358 NICOLAIDES-BARAITSER SYNDROME HP:0002223 Absent eyebrow IEA IEA OMIM-CS:skinnailshairhair > LOSS OF EYEBROWS OMIM:601358 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:142680 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT HP:0030953 Conjunctival hyperemia IEA IEA OMIM-CS:headandneckeyes > CONJUNCTIVAL INJECTION OMIM:142680 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300911 PARKINSONISM WITH SPASTICITY, X-LINKED HP:0001419 X-linked recessive inheritance IEA IEA OMIM-CS:inheritance > X-LINKED RECESSIVE OMIM:300911 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617121 JOUBERT SYNDROME 28 HP:0000639 Nystagmus IEA IEA OMIM-CS:headandneckeyes > NYSTAGMUS OMIM:617121 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617121 JOUBERT SYNDROME 28 HP:0000657 Oculomotor apraxia IEA IEA OMIM-CS:headandneckeyes > OCULOMOTOR APRAXIA OMIM:617121 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617121 JOUBERT SYNDROME 28 HP:0000488 Retinopathy IEA IEA rare OMIM-CS:headandneckeyes > RETINOPATHY (1 PATIENT) OMIM:617121 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617121 JOUBERT SYNDROME 28 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617121 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617121 JOUBERT SYNDROME 28 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:617121 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617121 JOUBERT SYNDROME 28 HP:0001251 Ataxia IEA IEA OMIM-CS:neurologiccentralnervoussystem > ATAXIA OMIM:617121 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617121 JOUBERT SYNDROME 28 HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED DEVELOPMENT OMIM:617121 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617121 JOUBERT SYNDROME 28 HP:0001249 Intellectual disability IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY (IN 1 PATIENT) OMIM:617121 HPO:skoehler 13.07.2017 . .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615084 MITOCHONDRIAL DNA DEPLETION SYNDROME 11 HP:0002093 Respiratory insufficiency IEA IEA OMIM-CS:respiratory > RESPIRATORY INSUFFICIENCY, SEVERE, DUE TO MUSCLE WEAKNESS OMIM:615084 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:277440 VITAMIN D-DEPENDENT RICKETS, TYPE 2A HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:277440 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300518 MENTAL RETARDATION, X-LINKED 82 HP:0001419 X-linked recessive inheritance IEA IEA OMIM-CS:inheritance > X-LINKED RECESSIVE OMIM:300518 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300518 MENTAL RETARDATION, X-LINKED 82 HP:0000729 Autistic behavior IEA IEA OMIM-CS:neurologicbehavioralpsychiatricmanifestations > AUTISTIC BEHAVIOR (PATIENT A) OMIM:300518 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300518 MENTAL RETARDATION, X-LINKED 82 HP:0002353 EEG abnormality IEA IEA OMIM-CS:neurologiccentralnervoussystem > ABNORMAL EEG (PATIENT B) OMIM:300518 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300518 MENTAL RETARDATION, X-LINKED 82 HP:0001249 Intellectual disability IEA IEA OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION, MILD TO PROFOUND OMIM:300518 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300518 MENTAL RETARDATION, X-LINKED 82 HP:0001250 Seizures IEA IEA OMIM-CS:neurologiccentralnervoussystem > SEIZURES (PATIENT A) OMIM:300518 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300518 MENTAL RETARDATION, X-LINKED 82 HP:0002808 Kyphosis IEA IEA OMIM-CS:skeletalspine > KYPHOSIS OMIM:300518 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300518 MENTAL RETARDATION, X-LINKED 82 HP:0002650 Scoliosis IEA IEA OMIM-CS:skeletalspine > SCOLIOSIS OMIM:300518 HPO:skoehler 13.07.2017 ........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617460 RETINITIS PIGMENTOSA 79 HP:0007663 Reduced visual acuity IEA IEA OMIM-CS:headandneckeyes > DECREASED VISUAL ACUITY (IN OLDER PATIENTS) OMIM:617460 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617460 RETINITIS PIGMENTOSA 79 HP:0007401 Macular atrophy IEA IEA OMIM-CS:headandneckeyes > MACULAR ATROPHY OMIM:617460 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617460 RETINITIS PIGMENTOSA 79 HP:0000662 Nyctalopia IEA IEA OMIM-CS:headandneckeyes > NYCTALOPIA OMIM:617460 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617460 RETINITIS PIGMENTOSA 79 HP:0000543 Optic disc pallor IEA IEA OMIM-CS:headandneckeyes > OPTIC DISC PALLOR OMIM:617460 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617460 RETINITIS PIGMENTOSA 79 HP:0000613 Photophobia IEA IEA OMIM-CS:headandneckeyes > PHOTOPHOBIA (IN OLDER PATIENTS) OMIM:617460 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617460 RETINITIS PIGMENTOSA 79 HP:0001133 Constriction of peripheral visual field IEA IEA OMIM-CS:headandneckeyes > REDUCED VISUAL FIELDS OMIM:617460 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617460 RETINITIS PIGMENTOSA 79 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:617460 HPO:skoehler 13.07.2017 .filter this Sun Sep 17 00:00:00 CEST 2017 OMIM:233690 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-NEGATIVE HP:0100658 Cellulitis TAS TAS Due to immunodeficiency OMIM:233690 HPO:probinson 2017-09-17 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:228100 VISCERAL STEATOSIS, CONGENITAL HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neuro > HYPOTONIA OMIM:228100 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615368 LETHAL CONGENITAL CONTRACTURE SYNDROME 5 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:615368 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615368 LETHAL CONGENITAL CONTRACTURE SYNDROME 5 HP:0000762 Decreased nerve conduction velocity IEA IEA OMIM-CS:neurologicperipheralnervoussystem > DECREASED NERVE CONDUCTION VELOCITIES OMIM:615368 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616728 CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES HP:0002558 Supernumerary nipple IEA IEA rare OMIM-CS:chestbreasts > SUPERNUMERARY NIPPLE (IN SOME PATIENTS) OMIM:616728 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616728 CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES HP:0002553 Highly arched eyebrow IEA IEA OMIM-CS:headandneckeyes > ARCHED EYEBROWS OMIM:616728 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616728 CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES HP:0000664 Synophrys IEA IEA rare OMIM-CS:headandneckeyes > SYNOPHRYS (IN SOME PATIENTS) OMIM:616728 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616728 CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES HP:0002007 Frontal bossing IEA IEA OMIM-CS:headandneckface > FRONTAL BOSSING OMIM:616728 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616728 CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:616728 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616728 CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES HP:0001270 Motor delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > MOTOR DELAY (SITTING AND WALKING MILESTONES DELAYED) OMIM:616728 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616728 CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES HP:0009778 Short thumb IEA IEA OMIM-CS:skeletalhands > SHORT THUMBS OMIM:616728 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616728 CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES HP:0001182 Tapered finger IEA IEA OMIM-CS:skeletalhands > TAPERED FINGERS OMIM:616728 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612731 FACIOCARDIOMELIC SYNDROME HP:0011565 Common atrium IEA IEA OMIM-CS:cardiovascularheart > SINGLE ATRIUM OMIM:612731 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612731 FACIOCARDIOMELIC SYNDROME HP:0430028 Hyperplasia of the maxilla IEA IEA OMIM-CS:headandneckmouth > PROMINENT MAXILLA OMIM:612731 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:606451 DEAFNESS, AUTOSOMAL DOMINANT 30 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:606451 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:210550 BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neuro > HYPOTONIA OMIM:210550 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616707 DEAFNESS, AUTOSOMAL DOMINANT 68 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:616707 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600001 HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES HP:0004415 Pulmonary artery stenosis IEA IEA OMIM-CS:cardiovascularvascular > PULMONARY ARTERY STENOSIS, BILATERAL BRANCH OMIM:600001 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608758 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 HP:0001670 Asymmetric septal hypertrophy IEA IEA OMIM-CS:cardiovascularheart > ASYMMETRIC SEPTAL HYPERTROPHY OMIM:608758 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608758 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 HP:0100749 Chest pain IEA IEA OMIM-CS:cardiovascularheart > CHEST PAIN OMIM:608758 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608758 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 HP:0001962 Palpitations IEA IEA OMIM-CS:cardiovascularheart > PALPITATIONS OMIM:608758 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608758 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 HP:0001645 Sudden cardiac death IEA IEA rare OMIM-CS:cardiovascularheart > SUDDEN CARDIAC DEATH (IN SOME PATIENTS) OMIM:608758 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608758 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 HP:0004755 Supraventricular tachycardia IEA IEA rare OMIM-CS:cardiovascularheart > SUPRAVENTRICULAR TACHYCARDIA (IN SOME PATIENTS) OMIM:608758 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608758 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 HP:0001663 Ventricular fibrillation IEA IEA rare OMIM-CS:cardiovascularheart > VENTRICULAR FIBRILLATION (IN SOME PATIENTS) OMIM:608758 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608758 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 HP:0002321 Vertigo IEA IEA OMIM-CS:neurologiccentralnervoussystem > DIZZINESS OMIM:608758 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608758 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 HP:0002094 Dyspnea IEA IEA OMIM-CS:respiratory > DYSPNEA OMIM:608758 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616546 SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:616546 HPO:skoehler 13.07.2017 .........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:182150 SIMOSA CRANIOFACIAL SYNDROME HP:0012368 Flat face IEA IEA OMIM-CS:headandneckface > FLAT FACIES OMIM:182150 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614559 INFANTILE CEREBELLAR-RETINAL DEGENERATION HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:614559 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:254780 MYOCLONIC EPILEPSY OF LAFORA HP:0025121 Simple partial occipital seizures IEA IEA OMIM-CS:neurologiccentralnervoussystem > SIMPLE PARTIAL OCCIPITAL SEIZURES OMIM:254780 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614607 COFFIN-SIRIS SYNDROME 2 HP:0030680 Abnormality of cardiovascular system morphology IEA IEA OMIM-CS:cardiovascularheart > CONGENITAL HEART DEFECTS OMIM:614607 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614607 COFFIN-SIRIS SYNDROME 2 HP:0004322 Short stature IEA IEA rare OMIM-CS:growthheight > SHORT STATURE (IN SOME PATIENTS) OMIM:614607 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614607 COFFIN-SIRIS SYNDROME 2 HP:0000377 Abnormality of the pinna IEA IEA OMIM-CS:headandneckears > MALFORMED EARS OMIM:614607 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614607 COFFIN-SIRIS SYNDROME 2 HP:0000574 Thick eyebrow IEA IEA OMIM-CS:headandneckeyes > THICK EYEBROWS OMIM:614607 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614607 COFFIN-SIRIS SYNDROME 2 HP:0000505 Visual impairment IEA IEA OMIM-CS:headandneckeyes > VISUAL IMPAIRMENT OMIM:614607 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614607 COFFIN-SIRIS SYNDROME 2 HP:0000158 Macroglossia IEA IEA OMIM-CS:headandneckmouth > MACROGLOSSIA OMIM:614607 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614607 COFFIN-SIRIS SYNDROME 2 HP:0000463 Anteverted nares IEA IEA OMIM-CS:headandnecknose > ANTEVERTED NOSTRILS OMIM:614607 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614607 COFFIN-SIRIS SYNDROME 2 HP:0000445 Wide nose IEA IEA OMIM-CS:headandnecknose > BROAD NOSE OMIM:614607 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614607 COFFIN-SIRIS SYNDROME 2 HP:0005280 Depressed nasal bridge IEA IEA OMIM-CS:headandnecknose > FLAT NASAL BRIDGE OMIM:614607 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614607 COFFIN-SIRIS SYNDROME 2 HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:614607 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614607 COFFIN-SIRIS SYNDROME 2 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:614607 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614607 COFFIN-SIRIS SYNDROME 2 HP:0001250 Seizures IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > SEIZURES (IN SOME PATIENTS) OMIM:614607 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614607 COFFIN-SIRIS SYNDROME 2 HP:0000750 Delayed speech and language development IEA IEA OMIM-CS:neurologiccentralnervoussystem > SPEECH DELAY OMIM:614607 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614607 COFFIN-SIRIS SYNDROME 2 HP:0002750 Delayed skeletal maturation IEA IEA OMIM-CS:skeletal > DELAYED BONE AGE OMIM:614607 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614607 COFFIN-SIRIS SYNDROME 2 HP:0009835 Aplasia/Hypoplasia of the distal phalanges of the hand IEA IEA OMIM-CS:skeletalfeet > HYPOPLASTIC TO ABSENT TERMINAL PHALANGES (ESPECIALLY FIFTH TOE) OMIM:614607 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614607 COFFIN-SIRIS SYNDROME 2 HP:0001156 Brachydactyly IEA IEA OMIM-CS:skeletalhands > BRACHYDACTYLY OMIM:614607 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614607 COFFIN-SIRIS SYNDROME 2 HP:0009835 Aplasia/Hypoplasia of the distal phalanges of the hand IEA IEA OMIM-CS:skeletalhands > HYPOPLASTIC TO ABSENT TERMINAL PHALANGES (ESPECIALLY FIFTH FINGER) OMIM:614607 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614607 COFFIN-SIRIS SYNDROME 2 HP:0000998 Hypertrichosis IEA IEA OMIM-CS:skinnailshairhair > HYPERTRICHOSIS OMIM:614607 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614607 COFFIN-SIRIS SYNDROME 2 HP:0000294 Low anterior hairline IEA IEA OMIM-CS:skinnailshairhair > LOW FRONTAL HAIRLINE OMIM:614607 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614607 COFFIN-SIRIS SYNDROME 2 HP:0001792 Small nail IEA IEA OMIM-CS:skinnailshairnails > HYPOPLASTIC NAILS OMIM:614607 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:609273 NEMALINE MYOPATHY 6 HP:0003546 Exercise intolerance IEA IEA OMIM-CS:musclesofttissue > POOR EXERCISE TOLERANCE OMIM:609273 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:313420 SPONDYLOMETAPHYSEAL DYSPLASIA, X-LINKED HP:0001423 X-linked dominant inheritance IEA IEA OMIM-CS:inheritance > X-LINKED DOMINANT OMIM:313420 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:313420 SPONDYLOMETAPHYSEAL DYSPLASIA, X-LINKED HP:0011342 Mild global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > PSYCHOMOTOR RETARDATION, MILD OMIM:313420 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM HP:0001537 Umbilical hernia IEA IEA rare OMIM-CS:abdomenexternalfeatures > UMBILICAL HERNIA (RARE) OMIM:610199 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM HP:0002036 Hiatus hernia IEA IEA rare OMIM-CS:abdomengastrointestinal > HIATAL HERNIA (RARE) OMIM:610199 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM HP:0001395 Hepatic fibrosis IEA IEA OMIM-CS:abdomenliver > HEPATIC FIBROSIS OMIM:610199 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM HP:0002240 Hepatomegaly IEA IEA OMIM-CS:abdomenliver > HEPATOMEGALY OMIM:610199 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM HP:0001409 Portal hypertension IEA IEA OMIM-CS:abdomenliver > PORTAL HYPERTENSION OMIM:610199 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM HP:0001737 Pancreatic cysts IEA IEA rare OMIM-CS:abdomenpancreas > PANCREATIC CYSTS (RARE) OMIM:610199 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM HP:0002594 Pancreatic hypoplasia IEA IEA rare OMIM-CS:abdomenpancreas > PANCREATIC HYPOPLASIA (RARE) OMIM:610199 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM HP:0030423 Splenic cyst IEA IEA rare OMIM-CS:abdomenspleen > SPLENIC CYST (RARE) OMIM:610199 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM HP:0001744 Splenomegaly IEA IEA rare OMIM-CS:abdomenspleen > SPLENOMEGALY (RARE) OMIM:610199 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM HP:0001409 Portal hypertension IEA IEA rare OMIM-CS:cardiovascularvascular > PORTAL HYPERTENSION (RARE) OMIM:610199 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM HP:0000113 Polycystic kidney dysplasia IEA IEA OMIM-CS:genitourinarykidneys > POLYCYSTIC KIDNEYS OMIM:610199 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM HP:0000369 Low-set ears IEA IEA OMIM-CS:headandneckears > LOW-SET EARS OMIM:610199 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM HP:0000407 Sensorineural hearing impairment IEA IEA rare OMIM-CS:headandneckears > SENSORINEURAL DEAFNESS, BILATERAL (IN SOME PATIENTS) OMIM:610199 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM HP:0000557 Buphthalmos IEA IEA rare OMIM-CS:headandneckeyes > BUPHTHALMOS (RARE) OMIM:610199 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM HP:0000286 Epicanthus IEA IEA OMIM-CS:headandneckeyes > EPICANTHAL FOLDS OMIM:610199 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM HP:0000343 Long philtrum IEA IEA OMIM-CS:headandneckface > LONG PHILTRUM OMIM:610199 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM HP:0000219 Thin upper lip vermilion IEA IEA OMIM-CS:headandneckmouth > THIN UPPER LIP OMIM:610199 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM HP:0000453 Choanal atresia IEA IEA rare OMIM-CS:headandnecknose > CHOANAL ATRESIA (RARE) OMIM:610199 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM HP:0005280 Depressed nasal bridge IEA IEA OMIM-CS:headandnecknose > FLAT NASAL BRIDGE OMIM:610199 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM HP:0002719 Recurrent infections IEA IEA rare OMIM-CS:immunology > SUSCEPTIBILITY TO INFECTION (IN SOME PATIENTS) OMIM:610199 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM HP:0003812 Phenotypic variability IEA IEA OMIM-CS:miscellaneous > VARIABLE PHENOTYPE OMIM:610199 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DEVELOPMENTAL DELAY OMIM:610199 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM HP:0000938 Osteopenia IEA IEA rare OMIM-CS:skeletal > OSTEOPENIA (RARE) OMIM:610199 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM HP:0000260 Wide anterior fontanel IEA IEA rare OMIM-CS:skeletalskull > LARGE ANTERIOR FONTANEL (RARE) OMIM:610199 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM HP:0004442 Sagittal craniosynostosis IEA IEA rare OMIM-CS:skeletalskull > SAGITTAL CRANIOSYNOSTOSIS (RARE) OMIM:610199 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM HP:0002944 Thoracolumbar scoliosis IEA IEA rare OMIM-CS:skeletalspine > THORACOLUMBAR SCOLIOSIS (RARE) OMIM:610199 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616868 DIARRHEA 8, SECRETORY SODIUM, CONGENITAL HP:0002037 Inflammation of the large intestine IEA IEA rare OMIM-CS:abdomengastrointestinal > INFLAMMATORY BOWEL DISEASE (IN SOME PATIENTS) OMIM:616868 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610759 CORNELIA DE LANGE SYNDROME 3 HP:0030680 Abnormality of cardiovascular system morphology IEA IEA OMIM-CS:cardiovascularheart > CONGENITAL HEART DEFECTS OMIM:610759 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610759 CORNELIA DE LANGE SYNDROME 3 HP:0001642 Pulmonic stenosis IEA IEA OMIM-CS:cardiovascularheart > PULMONARY VALVE STENOSIS OMIM:610759 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610759 CORNELIA DE LANGE SYNDROME 3 HP:0001671 Abnormality of the cardiac septa IEA IEA OMIM-CS:cardiovascularheart > SEPTAL DEFECTS OMIM:610759 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610759 CORNELIA DE LANGE SYNDROME 3 HP:0000508 Ptosis IEA IEA rare OMIM-CS:headandneckeyes > PTOSIS (IN SOME PATIENTS) OMIM:610759 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610759 CORNELIA DE LANGE SYNDROME 3 HP:0000574 Thick eyebrow IEA IEA OMIM-CS:headandneckeyes > THICK EYEBROWS OMIM:610759 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610759 CORNELIA DE LANGE SYNDROME 3 HP:0000347 Micrognathia IEA IEA rare OMIM-CS:headandneckface > MICROGNATHIA (IN SOME PATIENTS) OMIM:610759 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610759 CORNELIA DE LANGE SYNDROME 3 HP:0000248 Brachycephaly IEA IEA OMIM-CS:headandneckhead > BRACHYCEPHALY OMIM:610759 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610759 CORNELIA DE LANGE SYNDROME 3 HP:0000252 Microcephaly IEA IEA OMIM-CS:headandneckhead > MICROCEPHALY OMIM:610759 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610759 CORNELIA DE LANGE SYNDROME 3 HP:0002714 Downturned corners of mouth IEA IEA OMIM-CS:headandneckmouth > DOWNTURNED CORNERS OF THE MOUTH OMIM:610759 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610759 CORNELIA DE LANGE SYNDROME 3 HP:0000219 Thin upper lip vermilion IEA IEA OMIM-CS:headandneckmouth > THIN UPPER LIP OMIM:610759 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610759 CORNELIA DE LANGE SYNDROME 3 HP:0000470 Short neck IEA IEA rare OMIM-CS:headandneckneck > SHORT NECK (IN SOME PATIENTS) OMIM:610759 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610759 CORNELIA DE LANGE SYNDROME 3 HP:0000463 Anteverted nares IEA IEA OMIM-CS:headandnecknose > ANTEVERTED NOSTRILS OMIM:610759 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610759 CORNELIA DE LANGE SYNDROME 3 HP:0000414 Bulbous nose IEA IEA OMIM-CS:headandnecknose > BULBOUS NASAL TIP OMIM:610759 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610759 CORNELIA DE LANGE SYNDROME 3 HP:0005280 Depressed nasal bridge IEA IEA rare OMIM-CS:headandnecknose > DEPRESSED NASAL BRIDGE (IN SOME PATIENTS) OMIM:610759 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610759 CORNELIA DE LANGE SYNDROME 3 HP:0000164 Abnormality of the dentition IEA IEA rare OMIM-CS:headandneckteeth > DENTAL ANOMALIES (IN SOME PATIENTS) OMIM:610759 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610759 CORNELIA DE LANGE SYNDROME 3 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:610759 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610759 CORNELIA DE LANGE SYNDROME 3 HP:0003812 Phenotypic variability IEA IEA OMIM-CS:miscellaneous > HIGHLY VARIABLE PHENOTYPE OMIM:610759 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610759 CORNELIA DE LANGE SYNDROME 3 HP:0100543 Cognitive impairment IEA IEA OMIM-CS:neurologiccentralnervoussystem > COGNITIVE IMPAIRMENT OMIM:610759 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610759 CORNELIA DE LANGE SYNDROME 3 HP:0002465 Poor speech IEA IEA OMIM-CS:neurologiccentralnervoussystem > POOR SPEECH OMIM:610759 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610759 CORNELIA DE LANGE SYNDROME 3 HP:0001156 Brachydactyly IEA IEA OMIM-CS:skeletalhands > BRACHYDACTYLY OMIM:610759 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610759 CORNELIA DE LANGE SYNDROME 3 HP:0000294 Low anterior hairline IEA IEA rare OMIM-CS:skinnailshairhair > LOW ANTERIOR HAIRLINE (IN SOME PATIENTS) OMIM:610759 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610759 CORNELIA DE LANGE SYNDROME 3 HP:0100874 Thick hair IEA IEA OMIM-CS:skinnailshairhair > THICK HAIR OMIM:610759 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610759 CORNELIA DE LANGE SYNDROME 3 HP:0000965 Cutis marmorata IEA IEA rare OMIM-CS:skinnailshairskin > CUTIS MARMORATA (IN SOME PATIENTS) OMIM:610759 HPO:skoehler 13.07.2017 .......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614886 PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) HP:0001399 Hepatic failure IEA IEA OMIM-CS:abdomenliver > LIVER FAILURE OMIM:614886 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614886 PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) HP:0001631 Atrial septal defect IEA IEA OMIM-CS:cardiovascularheart > ATRIAL SEPTAL DEFECT OMIM:614886 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614886 PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) HP:0001719 Double outlet right ventricle IEA IEA OMIM-CS:cardiovascularheart > DOUBLE OUTLET RIGHT VENTRICLE (DORV) OMIM:614886 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614886 PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) HP:0001643 Patent ductus arteriosus IEA IEA OMIM-CS:cardiovascularheart > PATENT DUCTUS ARTERIOSUS OMIM:614886 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614886 PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) HP:0010461 Abnormality of the male genitalia IEA IEA OMIM-CS:genitourinaryexternalgenitaliamale > ABNORMAL MALE GENITALS OMIM:614886 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614886 PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) HP:0004322 Short stature IEA IEA OMIM-CS:growthheight > SHORT STATURE (3RD CENTILE) OMIM:614886 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614886 PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) HP:0004325 Decreased body weight IEA IEA OMIM-CS:growthweight > LOW WEIGHT (3RD CENTILE) OMIM:614886 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614886 PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) HP:0000286 Epicanthus IEA IEA OMIM-CS:headandneckeyes > EPICANTHAL FOLDS OMIM:614886 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614886 PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) HP:0000629 Periorbital fullness IEA IEA OMIM-CS:headandneckeyes > PERIORBITAL PUFFINESS OMIM:614886 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614886 PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) HP:0000238 Hydrocephalus IEA IEA OMIM-CS:headandneckhead > HYDROCEPHALUS OMIM:614886 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614886 PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) HP:0030799 Scaphocephaly IEA IEA OMIM-CS:headandneckhead > SCAPHOCEPHALY OMIM:614886 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614886 PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) HP:0000252 Microcephaly IEA IEA OMIM-CS:headandneckhead > SMALL HEAD (3RD CENTILE) OMIM:614886 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614886 PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) HP:0000448 Prominent nose IEA IEA OMIM-CS:headandnecknose > PROMINENT NOSE OMIM:614886 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614886 PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:614886 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614886 PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:614886 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614886 PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) HP:0001558 Decreased fetal movement IEA IEA OMIM-CS:prenatalmanifestationsmovement > REDUCED FETAL MOVEMENT OMIM:614886 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614886 PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) HP:0000260 Wide anterior fontanel IEA IEA OMIM-CS:skeletalskull > WIDE ANTERIOR FONTANEL OMIM:614886 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614753 SOTOS SYNDROME 2 HP:0000767 Pectus excavatum IEA IEA OMIM-CS:chestexternalfeatures > PECTUS EXCAVATUM OMIM:614753 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614753 SOTOS SYNDROME 2 HP:0000483 Astigmatism IEA IEA OMIM-CS:headandneckeyes > ASTIGMATISM OMIM:614753 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614753 SOTOS SYNDROME 2 HP:0000494 Downslanted palpebral fissures IEA IEA OMIM-CS:headandneckeyes > DOWN-SLANTING PALPEBRAL FISSURES OMIM:614753 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614753 SOTOS SYNDROME 2 HP:0000540 Hypermetropia IEA IEA OMIM-CS:headandneckeyes > HYPERMETROPIA OMIM:614753 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614753 SOTOS SYNDROME 2 HP:0000639 Nystagmus IEA IEA OMIM-CS:headandneckeyes > NYSTAGMUS OMIM:614753 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614753 SOTOS SYNDROME 2 HP:0000486 Strabismus IEA IEA OMIM-CS:headandneckeyes > STRABISMUS OMIM:614753 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614753 SOTOS SYNDROME 2 HP:0000348 High forehead IEA IEA OMIM-CS:headandneckhead > HIGH FOREHEAD OMIM:614753 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614753 SOTOS SYNDROME 2 HP:0000232 Everted lower lip vermilion IEA IEA OMIM-CS:headandneckmouth > EVERTED LOWER LIP OMIM:614753 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614753 SOTOS SYNDROME 2 HP:0000303 Mandibular prognathia IEA IEA OMIM-CS:headandneckmouth > PROGNATHIA OMIM:614753 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614753 SOTOS SYNDROME 2 HP:0000160 Narrow mouth IEA IEA OMIM-CS:headandneckmouth > SMALL MOUTH OMIM:614753 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614753 SOTOS SYNDROME 2 HP:0006288 Advanced eruption of teeth IEA IEA OMIM-CS:headandneckteeth > PREMATURE ERUPTION OF TEETH OMIM:614753 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614753 SOTOS SYNDROME 2 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:614753 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614753 SOTOS SYNDROME 2 HP:0001270 Motor delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > MOTOR RETARDATION OMIM:614753 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614753 SOTOS SYNDROME 2 HP:0000750 Delayed speech and language development IEA IEA OMIM-CS:neurologiccentralnervoussystem > SPEECH DELAY OMIM:614753 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614753 SOTOS SYNDROME 2 HP:0002119 Ventriculomegaly IEA IEA OMIM-CS:neurologiccentralnervoussystem > VENTRICULAR DILATATION OMIM:614753 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614753 SOTOS SYNDROME 2 HP:0100807 Long fingers IEA IEA OMIM-CS:skeletalhands > LONG FINGERS OMIM:614753 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614753 SOTOS SYNDROME 2 HP:0002673 Coxa valga IEA IEA OMIM-CS:skeletallimbs > COXA VALGA OMIM:614753 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614753 SOTOS SYNDROME 2 HP:0000965 Cutis marmorata IEA IEA MODIFIER:GENERALIZED;OMIM-CS:skinnailshairskin > LIVEDO RETICULARIS, GENERALIZED OMIM:614753 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616115 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4 HP:0025303 Episodic IEA IEA OMIM-CS:miscellaneous > EPISODIC OMIM:616115 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:304340 PETTIGREW SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:304340 HPO:skoehler 13.07.2017 . ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616647 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35 HP:0001638 Cardiomyopathy IEA IEA rare OMIM-CS:cardiovascularheart > CARDIOMYOPATHY (1 PATIENT) OMIM:616647 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616647 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35 HP:0001511 Intrauterine growth retardation IEA IEA OMIM-CS:growthother > INTRAUTERINE GROWTH RETARDATION OMIM:616647 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616647 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35 HP:0006829 Severe muscular hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA, SEVERE OMIM:616647 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616647 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35 HP:0002059 Cerebral atrophy IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY OMIM:616647 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616647 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35 HP:0001298 Encephalopathy IEA IEA OMIM-CS:neurologiccentralnervoussystem > ENCEPHALOPATHY OMIM:616647 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:259770 OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:259770 HPO:skoehler 13.07.2017 .......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608800 SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME HP:0025428 Bronchospasm IEA IEA OMIM-CS:respiratoryairways > BRONCHOSPASM OMIM:608800 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608800 SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME HP:0025425 Laryngospasm IEA IEA OMIM-CS:respiratorylarynx > LARYNGOSPASM OMIM:608800 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608800 SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME HP:0025431 Staccato cry IEA IEA OMIM-CS:voice > STACCATO CRY ('GOAT-LIKE') OMIM:608800 HPO:skoehler 13.07.2017 ..filter this Fri Jun 23 00:00:00 CEST 2017 OMIM:609122 ANEURYSM, INTRACRANIAL BERRY, 3 HP:0007029 Cerebral berry aneurysm TAS TAS OMIM:609122 HPO:probinson 2017-06-23 filter this Fri Jun 23 00:00:00 CEST 2017 OMIM:609122 ANEURYSM, INTRACRANIAL BERRY, 3 HP:0000006 Autosomal dominant inheritance TAS TAS OMIM:609122 HPO:probinson 2017-06-23 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615960 PORETTI-BOLTSHAUSER SYNDROME HP:0001290 Generalized hypotonia IEA IEA rare OMIM-CS:musclesofttissue > HYPOTONIA (IN SOME PATIENTS) OMIM:615960 HPO:skoehler 13.07.2017 .......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS HP:0000878 11 pairs of ribs IEA IEA rare OMIM-CS:chestribssternumclaviclesandscapulae > 11 PAIRS OF RIBS (RARE) OMIM:245600 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS HP:0011800 Midface retrusion IEA IEA OMIM-CS:headandneckface > MIDFACE HYPOPLASIA OMIM:245600 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS HP:0002757 Recurrent fractures IEA IEA rare OMIM-CS:skeletal > MULTIPLE FRACTURES (RARE) OMIM:245600 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS HP:0008905 Rhizomelia IEA IEA rare OMIM-CS:skeletallimbs > RHIZOMELIC SHORTENING (IN SOME PATIENTS) OMIM:245600 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:260480 PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX HP:0030991 Sclerosing cholangitis IEA IEA OMIM-CS:gi > SCLEROSING CHOLANGITIS OMIM:260480 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300661 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA (EARLY-ONSET FORM) OMIM:300661 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615065 ARTHROGRYPOSIS, DISTAL, TYPE 5D HP:0002827 Hip dislocation IEA IEA rare OMIM-CS:skeletalpelvis > DISLOCATED HIPS, BILATERAL (IN SOME PATIENTS) OMIM:615065 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615065 ARTHROGRYPOSIS, DISTAL, TYPE 5D HP:0002650 Scoliosis IEA IEA rare OMIM-CS:skeletalspine > SCOLIOSIS, MILD TO SEVERE (IN SOME PATIENTS) OMIM:615065 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616640 EPILEPSY, PROGRESSIVE MYOCLONIC, 10 HP:0003676 Progressive IEA IEA OMIM-CS:miscellaneous > PROGRESSIVE DISORDER OMIM:616640 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616640 EPILEPSY, PROGRESSIVE MYOCLONIC, 10 HP:0003828 Variable expressivity IEA IEA OMIM-CS:miscellaneous > VARIABLE SEVERITY OMIM:616640 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616640 EPILEPSY, PROGRESSIVE MYOCLONIC, 10 HP:0000709 Psychosis IEA IEA OMIM-CS:neurologicbehavioralpsychiatricmanifestations > PSYCHOSIS OMIM:616640 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616640 EPILEPSY, PROGRESSIVE MYOCLONIC, 10 HP:0100543 Cognitive impairment IEA IEA OMIM-CS:neurologiccentralnervoussystem > COGNITIVE IMPAIRMENT OMIM:616640 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616640 EPILEPSY, PROGRESSIVE MYOCLONIC, 10 HP:0000726 Dementia IEA IEA OMIM-CS:neurologiccentralnervoussystem > DEMENTIA OMIM:616640 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616640 EPILEPSY, PROGRESSIVE MYOCLONIC, 10 HP:0001347 Hyperreflexia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPERREFLEXIA OMIM:616640 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616640 EPILEPSY, PROGRESSIVE MYOCLONIC, 10 HP:0002300 Mutism IEA IEA OMIM-CS:neurologiccentralnervoussystem > MUTISM OMIM:616640 HPO:skoehler 13.07.2017 ........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:158810 BETHLEM MYOPATHY 1 HP:0003202 Skeletal muscle atrophy IEA IEA OMIM-CS:musclesofttissue > MUSCLE ATROPHY, MILD, MORE PROXIMAL THAN DISTAL OMIM:158810 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:250940 HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:250940 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:250940 HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:250940 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615582 LOEYS-DIETZ SYNDROME 5 HP:0001659 Aortic regurgitation IEA IEA rare OMIM-CS:cardiovascularheart > AORTIC INSUFFICIENCY, MILD (RARE) OMIM:615582 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615582 LOEYS-DIETZ SYNDROME 5 HP:0006830 Severe neonatal hypotonia in males IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > CONGENITAL HYPOTONIA, MILD (IN SOME PATIENTS) OMIM:615582 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615582 LOEYS-DIETZ SYNDROME 5 HP:0002758 Osteoarthritis IEA IEA rare OMIM-CS:skeletal > OSTEOARTHRITIS, EARLY ONSET (IN SOME PATIENTS) OMIM:615582 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616781 JOUBERT SYNDROME 25 HP:0003593 Infantile onset IEA IEA OMIM-CS:miscellaneous > ONSET IN INFANCY OMIM:616781 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616781 JOUBERT SYNDROME 25 HP:0001321 Cerebellar hypoplasia IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR HYPOPLASIA OMIM:616781 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616632 SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME HP:0001290 Generalized hypotonia IEA IEA rare OMIM-CS:musclesofttissue > HYPOTONIA (IN SOME PATIENTS) OMIM:616632 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:206000 ANEMIA, SIDEROBLASTIC, PYRIDOXINE-RESPONSIVE, AUTOSOMAL RECESSIVE HP:0025066 Decreased mean corpuscular volume IEA IEA OMIM-CS:heme > MICROCYTOSIS OMIM:206000 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617070 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 HP:0002015 Dysphagia IEA IEA rare OMIM-CS:abdomengastrointestinal > DYSPHAGIA (IN SOME PATIENTS) OMIM:617070 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617070 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 HP:0000407 Sensorineural hearing impairment IEA IEA OMIM-CS:headandneckears > SENSORINEURAL DEAFNESS (FAMILY A) OMIM:617070 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617070 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 HP:0000590 Progressive external ophthalmoplegia IEA IEA OMIM-CS:headandneckeyes > PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA (IN MOST PATIENTS) OMIM:617070 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617070 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 HP:0000508 Ptosis IEA IEA OMIM-CS:headandneckeyes > PTOSIS (IN MOST PATIENTS) OMIM:617070 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617070 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617070 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617070 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 HP:0003236 Elevated serum creatine phosphokinase IEA IEA OMIM-CS:laboratoryabnormalities > INCREASED SERUM CREATINE KINASE, MILD OMIM:617070 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617070 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 HP:0002151 Increased serum lactate IEA IEA OMIM-CS:laboratoryabnormalities > INCREASED SERUM LACTATE, MILD OMIM:617070 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617070 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 HP:0003581 Adult onset IEA IEA OMIM-CS:miscellaneous > ONSET IN ADULTHOOD OMIM:617070 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617070 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 HP:0003737 Mitochondrial myopathy IEA IEA OMIM-CS:musclesofttissue > MITOCHONDRIAL MYOPATHY OMIM:617070 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617070 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 HP:0003202 Skeletal muscle atrophy IEA IEA OMIM-CS:musclesofttissue > MUSCLE ATROPHY OMIM:617070 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617070 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 HP:0002460 Distal muscle weakness IEA IEA OMIM-CS:musclesofttissue > MUSCLE WEAKNESS, DISTAL (FAMILY A) OMIM:617070 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617070 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 HP:0003701 Proximal muscle weakness IEA IEA OMIM-CS:musclesofttissue > MUSCLE WEAKNESS, PROXIMAL OMIM:617070 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617070 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 HP:0003200 Ragged-red muscle fibers IEA IEA OMIM-CS:musclesofttissue > RAGGED-RED FIBERS OMIM:617070 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617070 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 HP:0100543 Cognitive impairment IEA IEA OMIM-CS:neurologiccentralnervoussystem > COGNITIVE IMPAIRMENT (FAMILY A) OMIM:617070 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617070 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 HP:0002120 Cerebral cortical atrophy IEA IEA OMIM-CS:neurologiccentralnervoussystem > CORTICAL ATROPHY (FAMILY A) OMIM:617070 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617070 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 HP:0003477 Peripheral axonal neuropathy IEA IEA OMIM-CS:neurologicperipheralnervoussystem > AXONAL NEUROPATHY (FAMILY A) OMIM:617070 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617070 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 HP:0001265 Hyporeflexia IEA IEA OMIM-CS:neurologicperipheralnervoussystem > HYPOREFLEXIA (FAMILY A) OMIM:617070 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617070 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 HP:0001618 Dysphonia IEA IEA OMIM-CS:voice > DYSPHONIA OMIM:617070 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613805 MEIER-GORLIN SYNDROME 5 HP:0011342 Mild global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > PSYCHOMOTOR RETARDATION, MILD OMIM:613805 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:605724 FANCONI ANEMIA, COMPLEMENTATION GROUP D1 HP:0004322 Short stature IEA IEA OMIM-CS:growthheight > SHORT STATURE OMIM:605724 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:605724 FANCONI ANEMIA, COMPLEMENTATION GROUP D1 HP:0005528 Bone marrow hypocellularity IEA IEA OMIM-CS:hematology > BONE MARROW FAILURE OMIM:605724 HPO:skoehler 13.07.2017 ..........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615344 PULMONARY HYPERTENSION, PRIMARY, 4 HP:0005317 Increased pulmonary vascular resistance IEA IEA OMIM-CS:cardiovascularvascular > INCREASED PULMONARY VASCULAR RESISTANCE OMIM:615344 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615344 PULMONARY HYPERTENSION, PRIMARY, 4 HP:0003829 Incomplete penetrance IEA IEA OMIM-CS:miscellaneous > INCOMPLETE PENETRANCE OMIM:615344 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615344 PULMONARY HYPERTENSION, PRIMARY, 4 HP:0003676 Progressive IEA IEA OMIM-CS:miscellaneous > PROGRESSIVE DISORDER OMIM:615344 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613563 NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:613563 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613563 NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA HP:0002213 Fine hair IEA IEA OMIM-CS:skinnailshairhair > THIN HAIR OMIM:613563 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613675 CHROMOSOME 17Q11.2 DELETION SYNDROME, 1.4-MB HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA (45%) OMIM:613675 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600399 PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:600399 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600399 PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:600399 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601707 CURRY-JONES SYNDROME HP:0012450 Chronic constipation IEA IEA rare OMIM-CS:abdomengastrointestinal > CHRONIC CONSTIPATION (IN SOME PATIENTS) OMIM:601707 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601707 CURRY-JONES SYNDROME HP:0002566 Intestinal malrotation IEA IEA rare OMIM-CS:abdomengastrointestinal > MALROTATION (IN SOME PATIENTS) OMIM:601707 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601707 CURRY-JONES SYNDROME HP:0001442 Somatic mosaicism IEA IEA OMIM-CS:inheritance > SOMATIC MOSAICISM OMIM:601707 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601707 CURRY-JONES SYNDROME HP:0007099 Arnold-Chiari type I malformation IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > CHIARI I MALFORMATION (IN SOME PATIENTS) OMIM:601707 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601707 CURRY-JONES SYNDROME HP:0007206 Hemimegalencephaly IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > HEMIMEGALENCEPHALY (IN SOME PATIENTS) OMIM:601707 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601707 CURRY-JONES SYNDROME HP:0001355 Megalencephaly IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > MEGALENCEPHALY (RARE) OMIM:601707 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601707 CURRY-JONES SYNDROME HP:0002126 Polymicrogyria IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > POLYMICROGYRIA (IN SOME PATIENTS) OMIM:601707 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601707 CURRY-JONES SYNDROME HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > PSYCHOMOTOR DELAY, MILD TO MODERATE OMIM:601707 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601707 CURRY-JONES SYNDROME HP:0002119 Ventriculomegaly IEA IEA OMIM-CS:neurologiccentralnervoussystem > VENTRICULOMEGALY OMIM:601707 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601707 CURRY-JONES SYNDROME HP:0011304 Broad thumb IEA IEA rare OMIM-CS:skeletalhands > BROAD THUMBS (IN SOME PATIENTS) OMIM:601707 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601707 CURRY-JONES SYNDROME HP:0009942 Duplication of thumb phalanx IEA IEA rare OMIM-CS:skeletalhands > DUPLICATED THUMBS (IN SOME PATIENTS) OMIM:601707 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601707 CURRY-JONES SYNDROME HP:0001007 Hirsutism IEA IEA rare OMIM-CS:skinnailshairhair > HIRSUTISM (RARE) OMIM:601707 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601707 CURRY-JONES SYNDROME HP:0010554 Cutaneous finger syndactyly IEA IEA OMIM-CS:skinnailshairskin > CUTANEOUS SYNDACTYLY OF FINGERS OMIM:601707 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601707 CURRY-JONES SYNDROME HP:0010621 Cutaneous syndactyly of toes IEA IEA rare OMIM-CS:skinnailshairskin > CUTANEOUS SYNDACTYLY OF TOES (IN SOME PATIENTS) OMIM:601707 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:177850 PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE HP:0025533 Peau d'orange TAS TAS OMIM:177850 HPO:skoehler 2017-07-13 filter this Sat Aug 26 00:00:00 CEST 2017 OMIM:177850 PSEUDOXANTHOMA ELASTICUM, FORME FRUSTEPSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED HP:0004966 Medial calcification of large arteries TAS TAS OMIM:177850 HPO:probinson 2017-08-26 filter this Sat Aug 26 00:00:00 CEST 2017 OMIM:177850 PSEUDOXANTHOMA ELASTICUM, FORME FRUSTEPSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED HP:0012457 Medial calcification of medium-sized arteries TAS TAS OMIM:177850 HPO:probinson 2017-08-26 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617158 MYOPATHY, DISTAL, WITH RIMMED VACUOLES HP:0003691 Scapular winging IEA IEA OMIM-CS:chestribssternumclaviclesandscapulae > SCAPULAR WINGING OMIM:617158 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617158 MYOPATHY, DISTAL, WITH RIMMED VACUOLES HP:0010628 Facial palsy IEA IEA OMIM-CS:headandneckface > FACIAL WEAKNESS, MILD OMIM:617158 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617158 MYOPATHY, DISTAL, WITH RIMMED VACUOLES HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:617158 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617158 MYOPATHY, DISTAL, WITH RIMMED VACUOLES HP:0003236 Elevated serum creatine phosphokinase IEA IEA OMIM-CS:laboratoryabnormalities > INCREASED SERUM CREATINE KINASE OMIM:617158 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617158 MYOPATHY, DISTAL, WITH RIMMED VACUOLES HP:0009027 Foot dorsiflexor weakness IEA IEA OMIM-CS:musclesofttissue > FOOT DROP OMIM:617158 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617158 MYOPATHY, DISTAL, WITH RIMMED VACUOLES HP:0003202 Skeletal muscle atrophy IEA IEA OMIM-CS:musclesofttissue > MUSCLE ATROPHY OMIM:617158 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617158 MYOPATHY, DISTAL, WITH RIMMED VACUOLES HP:0003805 Rimmed vacuoles IEA IEA OMIM-CS:musclesofttissue > RIMMED VACUOLES OMIM:617158 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617158 MYOPATHY, DISTAL, WITH RIMMED VACUOLES HP:0003376 Steppage gait IEA IEA OMIM-CS:musclesofttissue > STEPPAGE GAIT OMIM:617158 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617158 MYOPATHY, DISTAL, WITH RIMMED VACUOLES HP:0003438 Absent Achilles reflex IEA IEA OMIM-CS:neurologicperipheralnervoussystem > ABSENT ANKLE REFLEXES OMIM:617158 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616911 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 HP:0003577 Congenital onset IEA IEA OMIM-CS:miscellaneous > ONSET AT BIRTH OMIM:616911 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616911 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 HP:0001263 Global developmental delay IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT (IN SOME PATIENTS) OMIM:616911 HPO:skoehler 13.07.2017 ........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614462 HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:614462 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614462 HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES HP:0002059 Cerebral atrophy IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY (IN SOME PATIENTS) OMIM:614462 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614462 HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES HP:0002415 Leukodystrophy IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > LEUKODYSTROPHY (IN SOME PATIENTS) OMIM:614462 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614462 HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES HP:0001336 Myoclonus IEA IEA OMIM-CS:neurologiccentralnervoussystem > MYOCLONUS OMIM:614462 HPO:skoehler 13.07.2017 . .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617075 NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:617075 HPO:skoehler 13.07.2017 .filter this Mon May 29 00:00:00 CEST 2017 OMIM:614841 #614841 HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12 HP:0000013 Hypoplasia of the uterus TAS TAS OMIM:614841 HPO:probinson 2017-05-29 filter this Mon May 29 00:00:00 CEST 2017 OMIM:614841 #614841 HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12 HP:0008724 Hypoplasia of the ovary TAS TAS OMIM:614841 HPO:probinson 2017-05-29 filter this Mon May 29 00:00:00 CEST 2017 OMIM:614841 #614841 HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12 HP:0030339 Decreased circulating gonadotropin level TAS TAS OMIM:614841 HPO:probinson 2017-05-29 filter this Mon May 29 00:00:00 CEST 2017 OMIM:614841 #614841 HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12 HP:0040171 Decreased serum testosterone level TAS TAS OMIM:614841 HPO:probinson 2017-05-29 filter this Mon May 29 00:00:00 CEST 2017 OMIM:614841 #614841 HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12 HP:0008214 Decreased serum estradiol TAS TAS OMIM:614841 HPO:probinson 2017-05-29 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614841 HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA HP:0000013 Hypoplasia of the uterus IEA IEA OMIM-CS:genitourinaryinternalgenitaliafemale > SMALL UTERUS OMIM:614841 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613392 DEAFNESS, AUTOSOMAL RECESSIVE 85 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:613392 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612247 CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS HP:0000956 Acanthosis nigricans IEA IEA OMIM-CS:skinnailshairskin > ACANTHOSIS NIGRICANS (NECK, AXILLA, GROIN, PERIORBITAL REGION, PERIORAL REGION) OMIM:612247 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:604777 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5 HP:0025092 Epidermal acanthosis IEA IEA MODIFIER:MODERATE;OMIM-CS:skinnailshairskinhistology > ACANTHOSIS, MODERATE OMIM:604777 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613320 SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE HP:0000445 Wide nose IEA IEA OMIM-CS:headandnecknose > INCREASED NASAL WIDTH OMIM:613320 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617142 ANIRIDIA 3 HP:0000518 Cataract IEA IEA OMIM-CS:headandneckeyes > CATARACT OMIM:617142 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617142 ANIRIDIA 3 HP:0000529 Progressive visual loss IEA IEA OMIM-CS:headandneckeyes > DECREASED VISUAL ACUITY, PROGRESSIVE OMIM:617142 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617142 ANIRIDIA 3 HP:0000501 Glaucoma IEA IEA rare OMIM-CS:headandneckeyes > GLAUCOMA (IN SOME PATIENTS) OMIM:617142 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617142 ANIRIDIA 3 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:617142 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300243 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:300243 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:312780 RUSSELL-SILVER SYNDROME, X-LINKED HP:0001417 X-linked inheritance IEA IEA OMIM-CS:inheritance > X-LINKED, SEVERE IN MALES AND MILD IN FEMALES OMIM:312780 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:236750 HYDROPS FETALIS, NONIMMUNE HP:0003577 Congenital onset IEA IEA OMIM-CS:miscellaneous > ONSET IN UTERO OMIM:236750 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:236750 HYDROPS FETALIS, NONIMMUNE HP:0001790 Nonimmune hydrops fetalis IEA IEA OMIM-CS:preferredtitle > HYDROPS FETALIS, NONIMMUNE OMIM:236750 HPO:skoehler 13.07.2017 ......................filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613957 SPERMATOGENIC FAILURE 8 HP:0030974 Cryptozoospermia IEA IEA OMIM-CS:genitourinaryinternalgenitaliamale > CRYPTOZOOSPERMIA OMIM:613957 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615553 ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:615553 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:301790 SPINOCEREBELLAR ATAXIA, X-LINKED 3 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:301790 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616688 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z HP:0000365 Hearing impairment IEA IEA OMIM-CS:headandneckears > HEARING LOSS (IN 2 MEMBERS OF 1 FAMILY) OMIM:616688 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616688 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:616688 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616688 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z HP:0003677 Slow progression IEA IEA OMIM-CS:miscellaneous > SLOWLY PROGRESSIVE OMIM:616688 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616688 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z HP:0003812 Phenotypic variability IEA IEA OMIM-CS:miscellaneous > VARIABLE PHENOTYPE OMIM:616688 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616688 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z HP:0009027 Foot dorsiflexor weakness IEA IEA OMIM-CS:musclesofttissue > FOOT DROP OMIM:616688 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616688 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:616688 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616688 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z HP:0001276 Hypertonia IEA IEA rare OMIM-CS:musclesofttissue > INCREASED MUSCLE TONE (IN SOME PATIENTS) OMIM:616688 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616688 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z HP:0001263 Global developmental delay IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > DELAYED DEVELOPMENT (IN SOME PATIENTS) OMIM:616688 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616688 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z HP:0007256 Abnormal pyramidal signs IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > PYRAMIDAL SIGNS (IN SOME PATIENTS) OMIM:616688 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616688 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z HP:0001620 High pitched voice IEA IEA OMIM-CS:voice > HIGH-PITCHED VOICE (1 FAMILY) OMIM:616688 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:136550 MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE HP:0000603 Central scotoma IEA IEA OMIM-CS:headandneckeyes > CENTRAL SCOTOMATA OMIM:136550 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:136550 MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE HP:0007663 Reduced visual acuity IEA IEA OMIM-CS:headandneckeyes > DECREASED VISUAL ACUITY OMIM:136550 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:136550 MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE HP:0200070 Peripheral retinal atrophy IEA IEA OMIM-CS:headandneckeyes > PERIPHERAL RETINAL ATROPHY (IN OLDEST PATIENTS) OMIM:136550 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:612073 MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:612073 HPO:skoehler 13.07.2017 ..filter this Wed Jun 14 00:00:00 CEST 2017 OMIM:600513 EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1 HP:0011463 Childhood onset TAS TAS OMIM:600513 HPO:probinson 2017-06-14 .........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:607855 MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:607855 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617113 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:617113 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617113 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 HP:0003593 Infantile onset IEA IEA OMIM-CS:miscellaneous > ONSET IN FIRST YEAR OF LIFE (IN MOST PATIENTS) OMIM:617113 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617113 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:617113 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617113 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 HP:0000752 Hyperactivity IEA IEA OMIM-CS:neurologicbehavioralpsychiatricmanifestations > HYPERACTIVITY OMIM:617113 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617113 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 HP:0001251 Ataxia IEA IEA OMIM-CS:neurologiccentralnervoussystem > ATAXIA OMIM:617113 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617113 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:617113 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617113 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 HP:0100660 Dyskinesia IEA IEA OMIM-CS:neurologiccentralnervoussystem > DYSKINESIA OMIM:617113 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617113 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 HP:0200134 Epileptic encephalopathy IEA IEA OMIM-CS:neurologiccentralnervoussystem > EPILEPTIC ENCEPHALOPATHY OMIM:617113 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617113 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 HP:0001249 Intellectual disability IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY OMIM:617113 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617113 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 HP:0001250 Seizures IEA IEA OMIM-CS:neurologiccentralnervoussystem > SEIZURES OMIM:617113 HPO:skoehler 13.07.2017 .......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615878 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4 HP:0001402 Hepatocellular carcinoma IEA IEA OMIM-CS:neoplasia > HEPATOCELLULAR CARCINOMA, CHILDHOOD ONSET (REPORTED IN 2 PATIENTS) OMIM:615878 HPO:skoehler 13.07.2017 ........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:238970 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:238970 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616917 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 HP:0003577 Congenital onset IEA IEA OMIM-CS:miscellaneous > ONSET AT BIRTH OMIM:616917 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616917 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 HP:0006829 Severe muscular hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA, SEVERE OMIM:616917 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616917 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 HP:0001251 Ataxia IEA IEA OMIM-CS:neurologiccentralnervoussystem > ATAXIA (IN 1 FAMILY) OMIM:616917 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616917 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 HP:0001321 Cerebellar hypoplasia IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR HYPOPLASIA (IN FAMILY C) OMIM:616917 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616917 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 HP:0002059 Cerebral atrophy IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBRAL ATROPHY (IN FAMILY C) OMIM:616917 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:261740 GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL HP:0001999 Abnormal facial shape IEA IEA rare OMIM-CS:headandneckface > DYSMORPHIC FACIES, MILD (IN SOME PATIENTS) OMIM:261740 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616050 AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS HP:0000988 Skin rash IEA IEA OMIM-CS:skinnailshairskin > RASH OMIM:616050 HPO:skoehler 13.07.2017 .filter this Mon Feb 01 00:00:00 CET 2016 OMIM:600204 #600204 EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2 HP:0010585 Small epiphyses TAS TAS OMIM:600204 HPO:probinson Feb 1, 2016 filter this Mon Feb 01 00:00:00 CET 2016 OMIM:600204 #600204 EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2 HP:0011463 Childhood onset TAS TAS OMIM:600204 HPO:probinson Feb 1, 2016 ...... ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:162300 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:162300 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608716 MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE HP:0002553 Highly arched eyebrow IEA IEA OMIM-CS:headandneckeyes > ARCHED EYEBROWS OMIM:608716 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608716 MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE HP:0000520 Proptosis IEA IEA OMIM-CS:headandneckeyes > PROMINENT EYES OMIM:608716 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608716 MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE HP:0000341 Narrow forehead IEA IEA OMIM-CS:headandneckface > BITEMPORAL NARROWING OMIM:608716 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608716 MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE HP:0001321 Cerebellar hypoplasia IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR HYPOPLASIA (IN SOME PATIENTS) OMIM:608716 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608716 MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE HP:0002079 Hypoplasia of the corpus callosum IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOPLASTIC CORPUS CALLOSUM OMIM:608716 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300322 LESCH-NYHAN SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:300322 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608885 STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:608885 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608885 STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS HP:0003593 Infantile onset IEA IEA OMIM-CS:miscellaneous > ONSET IN INFANCY OMIM:608885 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608885 STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS HP:0001344 Absent speech IEA IEA OMIM-CS:neurologiccentralnervoussystem > ABSENT SPEECH (PATIENT B) OMIM:608885 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608885 STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS HP:0001251 Ataxia IEA IEA OMIM-CS:neurologiccentralnervoussystem > CEREBELLAR ATAXIA (PATIENT A) OMIM:608885 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608885 STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS HP:0012448 Delayed myelination IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED MYELINATION (PATIENT C) OMIM:608885 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608885 STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS HP:0002540 Inability to walk IEA IEA OMIM-CS:neurologiccentralnervoussystem > INABILITY TO WALK (PATIENT B) OMIM:608885 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:608885 STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS HP:0001257 Spasticity IEA IEA OMIM-CS:neurologiccentralnervoussystem > SPASTICITY (PATIENT B) OMIM:608885 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:250250 CARTILAGE-HAIR HYPOPLASIA HP:0002980 Femoral bowing IEA IEA OMIM-CS:skeletallimbs > BOWED FEMURS, MILD OMIM:250250 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:250250 CARTILAGE-HAIR HYPOPLASIA HP:0003311 Hypoplasia of the odontoid process IEA IEA rare OMIM-CS:skeletalspine > ODONTOID HYPOPLASIA, MILD (IN SOME PATIENTS) OMIM:250250 HPO:skoehler 13.07.2017 .......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616069 INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 HP:0025092 Epidermal acanthosis IEA IEA OMIM-CS:skinnailshairskinhistology > ACANTHOSIS, MILD OMIM:616069 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601438 RHIZOMELIC DYSPLASIA, PATTERSON-LOWRY TYPE HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:601438 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:601438 RHIZOMELIC DYSPLASIA, PATTERSON-LOWRY TYPE HP:0010743 Short metatarsal IEA IEA OMIM-CS:skeletalfeet > SHORT METATARSALS OMIM:601438 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617343 HYPERPARATHYROIDISM 4 HP:0006780 Parathyroid carcinoma IEA IEA rare OMIM-CS:endocrinefeatures > PARATHYROID CARCINOMA (RARE) OMIM:617343 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617343 HYPERPARATHYROIDISM 4 HP:0008200 Primary hyperparathyroidism IEA IEA OMIM-CS:endocrinefeatures > PRIMARY HYPERPARATHYROIDISM OMIM:617343 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617343 HYPERPARATHYROIDISM 4 HP:0000787 Nephrolithiasis IEA IEA rare OMIM-CS:genitourinarykidneys > NEPHROLITHIASIS (IN SOME PATIENTS) OMIM:617343 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617343 HYPERPARATHYROIDISM 4 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:617343 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617343 HYPERPARATHYROIDISM 4 HP:0003072 Hypercalcemia IEA IEA OMIM-CS:laboratoryabnormalities > HYPERCALCEMIA OMIM:617343 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617343 HYPERPARATHYROIDISM 4 HP:0000938 Osteopenia IEA IEA rare OMIM-CS:skeletal > OSTEOPENIA (IN SOME PATIENTS) OMIM:617343 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:161480 NASAL BONES, ABSENCE OF HP:0002000 Short columella IEA IEA OMIM-CS:headandnecknose > SHORT COLUMELLA OMIM:161480 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:161480 NASAL BONES, ABSENCE OF HP:0009933 Narrow naris IEA IEA OMIM-CS:headandnecknose > SMALL NOSTRILS OMIM:161480 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613174 CHROMOSOME 5P13 DUPLICATION SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA (2 PATIENTS) OMIM:613174 HPO:skoehler 13.07.2017 .........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616969 DEAFNESS, AUTOSOMAL DOMINANT 66 HP:0003828 Variable expressivity IEA IEA OMIM-CS:miscellaneous > VARIABLE EXPRESSIVITY OMIM:616969 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617114 MYOPATHY, MYOFIBRILLAR, 7 HP:0010628 Facial palsy IEA IEA OMIM-CS:headandneckface > FACIAL MUSCLE WEAKNESS OMIM:617114 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617114 MYOPATHY, MYOFIBRILLAR, 7 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617114 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617114 MYOPATHY, MYOFIBRILLAR, 7 HP:0003236 Elevated serum creatine phosphokinase IEA IEA OMIM-CS:laboratoryabnormalities > INCREASED SERUM CREATINE KINASE OMIM:617114 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617114 MYOPATHY, MYOFIBRILLAR, 7 HP:0003677 Slow progression IEA IEA OMIM-CS:miscellaneous > SLOWLY PROGRESSIVE OMIM:617114 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617114 MYOPATHY, MYOFIBRILLAR, 7 HP:0002355 Difficulty walking IEA IEA OMIM-CS:musclesofttissue > DIFFICULTY WALKING OMIM:617114 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617114 MYOPATHY, MYOFIBRILLAR, 7 HP:0003202 Skeletal muscle atrophy IEA IEA OMIM-CS:musclesofttissue > MUSCLE ATROPHY OMIM:617114 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617114 MYOPATHY, MYOFIBRILLAR, 7 HP:0001265 Hyporeflexia IEA IEA OMIM-CS:neurologicperipheralnervoussystem > HYPOREFLEXIA OMIM:617114 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617114 MYOPATHY, MYOFIBRILLAR, 7 HP:0001762 Talipes equinovarus IEA IEA OMIM-CS:skeletalfeet > PES EQUINOVARUS OMIM:617114 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617114 MYOPATHY, MYOFIBRILLAR, 7 HP:0001771 Achilles tendon contracture IEA IEA OMIM-CS:skeletallimbs > ACHILLES TENDON CONTRACTURES OMIM:617114 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617114 MYOPATHY, MYOFIBRILLAR, 7 HP:0002987 Elbow flexion contracture IEA IEA OMIM-CS:skeletallimbs > ELBOW CONTRACTURES OMIM:617114 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617114 MYOPATHY, MYOFIBRILLAR, 7 HP:0002808 Kyphosis IEA IEA OMIM-CS:skeletalspine > KYPHOSIS OMIM:617114 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617114 MYOPATHY, MYOFIBRILLAR, 7 HP:0003307 Hyperlordosis IEA IEA OMIM-CS:skeletalspine > LORDOSIS OMIM:617114 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617114 MYOPATHY, MYOFIBRILLAR, 7 HP:0003306 Spinal rigidity IEA IEA OMIM-CS:skeletalspine > RIGID SPINE OMIM:617114 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616260 TENORIO SYNDROME HP:0030880 Raynaud phenomenon IEA IEA OMIM-CS:cardiovascularvascular > RAYNAUD PHENOMENON OMIM:616260 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616260 TENORIO SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:616260 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:242100 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 HP:0001596 Alopecia IEA IEA rare OMIM-CS:skinnailshairhair > ALOPECIA, MILD DIFFUSE (RARE) OMIM:242100 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:242100 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 HP:0010783 Erythema IEA IEA rare OMIM-CS:skinnailshairskin > ERYTHEMA, MILD TO MODERATE (IN SOME PATIENTS) OMIM:242100 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:242100 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 HP:0025092 Epidermal acanthosis IEA IEA OMIM-CS:skinnailshairskinhistology > ACANTHOSIS OMIM:242100 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:242100 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 HP:0025114 Hypergranulosis IEA IEA OMIM-CS:skinnailshairskinhistology > HYPERGRANULOSIS, MILD OMIM:242100 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610377 MEVALONIC ACIDURIA HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:610377 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614741 MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:614741 HPO:skoehler 13.07.2017 .......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:116200 CATARACT 1, MULTIPLE TYPES HP:0000482 Microcornea IEA IEA rare OMIM-CS:headandneckeyes > MICROCORNEA (IN SOME PATIENTS) OMIM:116200 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:116200 CATARACT 1, MULTIPLE TYPES HP:0007787 Posterior subcapsular cataract IEA IEA OMIM-CS:headandneckeyes > POSTERIOR SUBCAPSULAR CATARACT OMIM:116200 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:203800 ALSTROM SYNDROME HP:0001133 Constriction of peripheral visual field IEA IEA OMIM-CS:headandneckeyes > VISUAL FIELD CONSTRICTION OMIM:203800 HPO:skoehler 13.07.2017 .......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:613680 BEAULIEU-BOYCOTT-INNES SYNDROME HP:0000348 High forehead IEA IEA OMIM-CS:headandneckface > TALL FOREHEAD OMIM:613680 HPO:skoehler 13.07.2017 ........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615560 OTOFACIOCERVICAL SYNDROME 2 HP:0000265 Mastoiditis IEA IEA rare OMIM-CS:skeletalskull > MASTOIDITIS, BILATERAL (IN SOME PATIENTS) OMIM:615560 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617175 RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES HP:0000853 Goiter IEA IEA rare OMIM-CS:endocrinefeatures > GOITER (IN SOME PATIENTS) OMIM:617175 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617175 RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES HP:0008209 Premature ovarian insufficiency IEA IEA rare OMIM-CS:endocrinefeatures > PRIMARY OVARIAN INSUFFICIENCY (IN SOME PATIENTS) OMIM:617175 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617175 RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES HP:0000869 Secondary amenorrhea IEA IEA rare OMIM-CS:genitourinaryinternalgenitaliafemale > SECONDARY AMENORRHEA (IN SOME PATIENTS) OMIM:617175 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617175 RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES HP:0007663 Reduced visual acuity IEA IEA OMIM-CS:headandneckeyes > DECREASED VISUAL ACUITY OMIM:617175 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617175 RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES HP:0000556 Retinal dystrophy IEA IEA MODIFIER:PROGRESSIVE;OMIM-CS:headandneckeyes > RETINAL DYSTROPHY, PROGRESSIVE OMIM:617175 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617175 RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES HP:0000853 Goiter IEA IEA rare OMIM-CS:headandneckneck > GOITER (IN SOME PATIENTS) OMIM:617175 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617175 RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617175 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617175 RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES HP:0002206 Pulmonary fibrosis IEA IEA OMIM-CS:respiratorylung > PULMONARY FIBROSIS (IN 1 PATIENT) OMIM:617175 HPO:skoehler 13.07.2017 ..........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616323 MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:616323 HPO:skoehler 13.07.2017 ...... ...........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616809 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 HP:0011968 Feeding difficulties IEA IEA OMIM-CS:abdomengastrointestinal > POOR FEEDING (FAMILY A) OMIM:616809 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616809 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 HP:0000637 Long palpebral fissure IEA IEA OMIM-CS:headandneckeyes > LONG PALPEBRAL FISSURES (FAMILY B) OMIM:616809 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616809 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 HP:0000486 Strabismus IEA IEA OMIM-CS:headandneckeyes > STRABISMUS (FAMILY B) OMIM:616809 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616809 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 HP:0000252 Microcephaly IEA IEA OMIM-CS:headandneckhead > MICROCEPHALY (-3 TO -5 SD) (FAMILY B) OMIM:616809 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616809 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 HP:0000218 High palate IEA IEA OMIM-CS:headandneckmouth > HIGH-ARCHED PALATE (FAMILY A) OMIM:616809 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616809 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 HP:0000154 Wide mouth IEA IEA OMIM-CS:headandneckmouth > WIDE MOUTH (FAMILY B) OMIM:616809 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616809 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 HP:0000414 Bulbous nose IEA IEA OMIM-CS:headandnecknose > BULBOUS NASAL TIP (FAMILY B) OMIM:616809 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616809 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 HP:0008936 Muscular hypotonia of the trunk IEA IEA OMIM-CS:musclesofttissue > TRUNCAL HYPOTONIA (FAMILY A) OMIM:616809 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616809 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 HP:0000752 Hyperactivity IEA IEA OMIM-CS:neurologicbehavioralpsychiatricmanifestations > HYPERACTIVITY (FAMILY B) OMIM:616809 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616809 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 HP:0000750 Delayed speech and language development IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED SPEECH (FAMILY B) OMIM:616809 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616809 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 HP:0008936 Muscular hypotonia of the trunk IEA IEA OMIM-CS:neurologiccentralnervoussystem > TRUNCAL HYPOTONIA (FAMILY A) OMIM:616809 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616809 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 HP:0001561 Polyhydramnios IEA IEA OMIM-CS:prenatalmanifestationsamnioticfluid > POLYHYDRAMNIOS (1 PATIENT IN FAMILY A) OMIM:616809 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616809 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 HP:0000938 Osteopenia IEA IEA OMIM-CS:skeletal > OSTEOPENIA (FAMILY A) OMIM:616809 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:616809 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 HP:0030084 Clinodactyly IEA IEA OMIM-CS:skeletalhands > CLINODACTYLY (FAMILY A) OMIM:616809 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:209100 ATONIC-ASTATIC SYNDROME OF FOERSTER HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neuro > HYPOTONIA OMIM:209100 HPO:skoehler 13.07.2017 ..filter this Tue Jul 19 00:00:00 CEST 2016 OMIM:115310 PARAGANGLIOMAS 4 HP:0006824 Cranial nerve paralysis TAS TAS OMIM:115310 HPO:probinson 19-Jul-2016 filter this Fri Jul 22 00:00:00 CEST 2016 OMIM:115310 PARAGANGLIOMAS 4 HP:0011976 Elevated urinary catecholamines TAS TAS With pheochromocytoma OMIM:115310 HPO:probinson 22-Jul-2016 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611107 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4 HP:0000582 Upslanted palpebral fissure IEA IEA OMIM-CS:headandneckeyes > UPSLANTING PALPEBRAL FISSURES OMIM:611107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611107 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4 HP:0000272 Malar flattening IEA IEA OMIM-CS:headandneckface > MALAR HYPOPLASIA, MILD OMIM:611107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611107 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4 HP:0000252 Microcephaly IEA IEA OMIM-CS:headandneckhead > MICROCEPHALY, MILD (-2.7 SD) OMIM:611107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611107 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:611107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611107 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4 HP:0012448 Delayed myelination IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED MYELINATION, MILD OMIM:611107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611107 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4 HP:0001249 Intellectual disability IEA IEA OMIM-CS:neurologiccentralnervoussystem > MENTAL RETARDATION OMIM:611107 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:611107 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4 HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > PSYCHOMOTOR DEVELOPMENTAL DELAY, SEVERE OMIM:611107 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615656 CHROMOSOME 15Q11.2 DELETION SYNDROME HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:615656 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:269150 SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME HP:0030736 Sacrococcygeal teratoma IEA IEA OMIM-CS:neoplasia > SACROCOCCYGEAL TERATOMA OMIM:269150 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617201 PERIVENTRICULAR NODULAR HETEROTOPIA 7 HP:0000028 Cryptorchidism IEA IEA OMIM-CS:genitourinaryexternalgenitaliamale > CRYPTORCHIDISM OMIM:617201 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617201 PERIVENTRICULAR NODULAR HETEROTOPIA 7 HP:0000365 Hearing impairment IEA IEA rare OMIM-CS:headandneckears > HEARING IMPAIRMENT (IN SOME PATIENTS) OMIM:617201 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617201 PERIVENTRICULAR NODULAR HETEROTOPIA 7 HP:0000648 Optic atrophy IEA IEA rare OMIM-CS:headandneckeyes > OPTIC ATROPHY (IN SOME PATIENTS) OMIM:617201 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617201 PERIVENTRICULAR NODULAR HETEROTOPIA 7 HP:0000486 Strabismus IEA IEA OMIM-CS:headandneckeyes > STRABISMUS OMIM:617201 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617201 PERIVENTRICULAR NODULAR HETEROTOPIA 7 HP:0001999 Abnormal facial shape IEA IEA rare OMIM-CS:headandneckface > DYSMORPHIC FACIAL FEATURES, VARIABLE (IN SOME PATIENTS) OMIM:617201 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617201 PERIVENTRICULAR NODULAR HETEROTOPIA 7 HP:0000347 Micrognathia IEA IEA OMIM-CS:headandneckface > MICROGNATHIA OMIM:617201 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617201 PERIVENTRICULAR NODULAR HETEROTOPIA 7 HP:0000175 Cleft palate IEA IEA OMIM-CS:headandneckmouth > CLEFT PALATE OMIM:617201 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617201 PERIVENTRICULAR NODULAR HETEROTOPIA 7 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:617201 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617201 PERIVENTRICULAR NODULAR HETEROTOPIA 7 HP:0003577 Congenital onset IEA IEA OMIM-CS:miscellaneous > ONSET AT BIRTH OMIM:617201 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617201 PERIVENTRICULAR NODULAR HETEROTOPIA 7 HP:0008936 Muscular hypotonia of the trunk IEA IEA OMIM-CS:musclesofttissue > TRUNCAL HYPOTONIA OMIM:617201 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617201 PERIVENTRICULAR NODULAR HETEROTOPIA 7 HP:0002539 Cortical dysplasia IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > CORTICAL DYSPLASIA (IN SOME PATIENTS) OMIM:617201 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617201 PERIVENTRICULAR NODULAR HETEROTOPIA 7 HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT OMIM:617201 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617201 PERIVENTRICULAR NODULAR HETEROTOPIA 7 HP:0001249 Intellectual disability IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY OMIM:617201 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617201 PERIVENTRICULAR NODULAR HETEROTOPIA 7 HP:0001250 Seizures IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > SEIZURES (IN SOME PATIENTS) OMIM:617201 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617201 PERIVENTRICULAR NODULAR HETEROTOPIA 7 HP:0002079 Hypoplasia of the corpus callosum IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > THIN CORPUS CALLOSUM (IN SOME PATIENTS) OMIM:617201 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617201 PERIVENTRICULAR NODULAR HETEROTOPIA 7 HP:0001371 Flexion contracture IEA IEA rare OMIM-CS:skeletal > CONTRACTURES (IN SOME PATIENTS) OMIM:617201 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617201 PERIVENTRICULAR NODULAR HETEROTOPIA 7 HP:0004691 2-3 toe syndactyly IEA IEA OMIM-CS:skeletalfeet > TOE SYNDACTYLY, 2-3 OMIM:617201 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600666 POLYCYSTIC KIDNEY DISEASE 3 HP:0001407 Hepatic cysts IEA IEA OMIM-CS:abdomenliver > LIVER CYSTS OMIM:600666 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600666 POLYCYSTIC KIDNEY DISEASE 3 HP:0001410 Decreased liver function IEA IEA rare OMIM-CS:abdomenliver > LIVER DYSFUNCTION (IN SOME PATIENTS) OMIM:600666 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600666 POLYCYSTIC KIDNEY DISEASE 3 HP:0000822 Hypertension IEA IEA rare OMIM-CS:cardiovascularvascular > HYPERTENSION (IN SOME PATIENTS) OMIM:600666 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600666 POLYCYSTIC KIDNEY DISEASE 3 HP:0004944 Dilatation of the cerebral artery IEA IEA OMIM-CS:cardiovascularvascular > INTRACRANIAL ANEURYSM (1 FAMILY) OMIM:600666 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600666 POLYCYSTIC KIDNEY DISEASE 3 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:600666 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:600666 POLYCYSTIC KIDNEY DISEASE 3 HP:0003828 Variable expressivity IEA IEA OMIM-CS:miscellaneous > HIGHLY VARIABLE SEVERITY OMIM:600666 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:118400 CHERUBISM HP:0030802 Lower eyelid retraction IEA IEA OMIM-CS:headandneckeyes > LOWER EYELID RETRACTION OMIM:118400 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610753 ALOPECIA AREATA 2 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:610753 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610753 ALOPECIA AREATA 2 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:610753 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610753 ALOPECIA AREATA 2 HP:0003829 Incomplete penetrance IEA IEA OMIM-CS:miscellaneous > INCOMPLETE PENETRANCE OMIM:610753 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610753 ALOPECIA AREATA 2 HP:0002289 Alopecia universalis IEA IEA OMIM-CS:skinnailshairhair > ALOPECIA UNIVERSALIS OMIM:610753 HPO:skoehler 13.07.2017 .filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300636 IMMUNODEFICIENCY 33 HP:0000698 Conical tooth IEA IEA rare OMIM-CS:headandneckteeth > CONICAL TEETH (IN SOME PATIENTS) OMIM:300636 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300636 IMMUNODEFICIENCY 33 HP:0000684 Delayed eruption of teeth IEA IEA rare OMIM-CS:headandneckteeth > DELAYED ERUPTION OF TEETH (IN SOME PATIENTS) OMIM:300636 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300636 IMMUNODEFICIENCY 33 HP:0001419 X-linked recessive inheritance IEA IEA OMIM-CS:inheritance > X-LINKED RECESSIVE OMIM:300636 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0001659 Aortic regurgitation IEA IEA OMIM-CS:cardiovascularheart > AORTIC INSUFFICIENCY OMIM:617402 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0001631 Atrial septal defect IEA IEA OMIM-CS:cardiovascularheart > ATRIAL SEPTAL DEFECT OMIM:617402 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0001634 Mitral valve prolapse IEA IEA OMIM-CS:cardiovascularheart > MITRAL VALVE PROLAPSE OMIM:617402 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0005180 Tricuspid regurgitation IEA IEA OMIM-CS:cardiovascularheart > TRICUSPID INSUFFICIENCY OMIM:617402 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0008689 Bilateral cryptorchidism IEA IEA OMIM-CS:genitourinaryinternalgenitaliamale > CRYPTORCHIDISM, BILATERAL OMIM:617402 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0004322 Short stature IEA IEA OMIM-CS:growthheight > SHORT STATURE OMIM:617402 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0001519 Disproportionate tall stature IEA IEA OMIM-CS:growthother > MARFANOID HABITUS OMIM:617402 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0004325 Decreased body weight IEA IEA OMIM-CS:growthweight > LOW WEIGHT OMIM:617402 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0000369 Low-set ears IEA IEA OMIM-CS:headandneckears > LOW-SET EARS OMIM:617402 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0000621 Entropion IEA IEA OMIM-CS:headandneckeyes > ENTROPION OMIM:617402 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0000316 Hypertelorism IEA IEA OMIM-CS:headandneckeyes > HYPERTELORISM OMIM:617402 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0000639 Nystagmus IEA IEA OMIM-CS:headandneckeyes > NYSTAGMUS OMIM:617402 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0000343 Long philtrum IEA IEA OMIM-CS:headandneckface > LONG PHILTRUM OMIM:617402 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0000678 Dental crowding IEA IEA OMIM-CS:headandneckmouth > DENTAL CROWDING OMIM:617402 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0000218 High palate IEA IEA OMIM-CS:headandneckmouth > HIGH-ARCHED PALATE OMIM:617402 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0010761 Broad columella IEA IEA OMIM-CS:headandnecknose > BROAD COLUMELLA OMIM:617402 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0000455 Broad nasal tip IEA IEA OMIM-CS:headandnecknose > BROAD NASAL TIP OMIM:617402 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0009933 Narrow naris IEA IEA OMIM-CS:headandnecknose > NARROW NOSTRILS OMIM:617402 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617402 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0003758 Reduced subcutaneous adipose tissue IEA IEA OMIM-CS:musclesofttissue > SPARSE SUBCUTANEOUS FAT OMIM:617402 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:617402 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0001601 Laryngomalacia IEA IEA OMIM-CS:respiratorylarynx > LARYNGOMALACIA OMIM:617402 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0001388 Joint laxity IEA IEA OMIM-CS:skeletal > JOINT LAXITY OMIM:617402 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0001762 Talipes equinovarus IEA IEA OMIM-CS:skeletalfeet > CLUB FEET OMIM:617402 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0001763 Pes planus IEA IEA OMIM-CS:skeletalfeet > FLAT FEET OMIM:617402 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0001188 Hand clenching IEA IEA OMIM-CS:skeletalhands > CLENCHED HANDS OMIM:617402 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0006380 Knee flexion contracture IEA IEA OMIM-CS:skeletallimbs > FLEXION CONTRACTURES OF KNEES OMIM:617402 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0001385 Hip dysplasia IEA IEA OMIM-CS:skeletalpelvis > HIP DYSPLASIA OMIM:617402 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC HP:0002751 Kyphoscoliosis IEA IEA OMIM-CS:skeletalspine > KYPHOSCOLIOSIS OMIM:617402 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:248360 MALONYL-COA DECARBOXYLASE DEFICIENCY HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:248360 HPO:skoehler 13.07.2017 ....Unknown header column: SEX .........filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617364 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA HP:0011968 Feeding difficulties IEA IEA OMIM-CS:abdomengastrointestinal > FEEDING DIFFICULTIES OMIM:617364 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617364 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA HP:0000639 Nystagmus IEA IEA OMIM-CS:headandneckeyes > NYSTAGMUS OMIM:617364 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617364 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA HP:0011220 Prominent forehead IEA IEA OMIM-CS:headandneckface > PROMINENT FOREHEAD OMIM:617364 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617364 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA HP:0000252 Microcephaly IEA IEA OMIM-CS:headandneckhead > MICROCEPHALY, MILD OMIM:617364 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617364 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA HP:0005280 Depressed nasal bridge IEA IEA OMIM-CS:headandnecknose > DEPRESSED NASAL BRIDGE OMIM:617364 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617364 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA HP:0000426 Prominent nasal bridge IEA IEA OMIM-CS:headandnecknose > PROMINENT NASAL BRIDGE OMIM:617364 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617364 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA HP:0006323 Premature loss of primary teeth IEA IEA OMIM-CS:headandneckteeth > PREMATURE LOSS OF PRIMARY TEETH OMIM:617364 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617364 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA HP:0000691 Microdontia IEA IEA OMIM-CS:headandneckteeth > SMALL TEETH OMIM:617364 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617364 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA HP:0000687 Widely spaced teeth IEA IEA OMIM-CS:headandneckteeth > WIDELY SPACED TEETH OMIM:617364 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617364 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:617364 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617364 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:617364 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617364 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA HP:0000750 Delayed speech and language development IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED SPEECH OMIM:617364 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617364 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > GLOBAL DEVELOPMENTAL DELAY OMIM:617364 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617364 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA HP:0011304 Broad thumb IEA IEA OMIM-CS:skeletalhands > BROAD THUMBS OMIM:617364 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617364 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA HP:0001159 Syndactyly IEA IEA OMIM-CS:skeletalhands > SYNDACTYLY OMIM:617364 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617364 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA HP:0002650 Scoliosis IEA IEA OMIM-CS:skeletalspine > SCOLIOSIS OMIM:617364 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617364 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA HP:0002209 Sparse scalp hair IEA IEA OMIM-CS:skinnailshairhair > SPARSE SCALP HAIR OMIM:617364 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617364 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA HP:0001808 Fragile nails IEA IEA OMIM-CS:skinnailshairnails > FRAGILE NAILS OMIM:617364 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617364 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA HP:0000958 Dry skin IEA IEA OMIM-CS:skinnailshairskin > DRY SKIN OMIM:617364 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617364 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA HP:0000963 Thin skin IEA IEA OMIM-CS:skinnailshairskin > THIN SKIN OMIM:617364 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610131 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 HP:0002578 Gastroparesis IEA IEA rare OMIM-CS:abdomengastrointestinal > DELAYED GASTRIC EMPTYING (IN SOME PATIENTS) OMIM:610131 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:610131 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 HP:0001290 Generalized hypotonia IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA (IN SOME PATIENTS) OMIM:610131 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:602196 PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:602196 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614424 JOUBERT SYNDROME 14 HP:0025514 Morning glory anomaly IEA IEA OMIM-CS:headandneckeyes > MORNING GLORY DISC ANOMALY (1 FAMILY) OMIM:614424 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614424 JOUBERT SYNDROME 14 HP:0000348 High forehead IEA IEA OMIM-CS:headandneckhead > TALL FOREHEAD OMIM:614424 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614424 JOUBERT SYNDROME 14 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA OMIM:614424 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614424 JOUBERT SYNDROME 14 HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED PSYCHOMOTOR DEVELOPMENT, SEVERE TO PROFOUND OMIM:614424 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614424 JOUBERT SYNDROME 14 HP:0001290 Generalized hypotonia IEA IEA OMIM-CS:neurologiccentralnervoussystem > HYPOTONIA OMIM:614424 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617280 ATRIAL FIBRILLATION, FAMILIAL, 18 HP:0001662 Bradycardia IEA IEA rare OMIM-CS:cardiovascularheart > BRADYCARDIA (IN SOME PATIENTS) OMIM:617280 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617280 ATRIAL FIBRILLATION, FAMILIAL, 18 HP:0001962 Palpitations IEA IEA OMIM-CS:cardiovascularheart > PALPITATIONS OMIM:617280 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617280 ATRIAL FIBRILLATION, FAMILIAL, 18 HP:0004757 Paroxysmal atrial fibrillation IEA IEA rare OMIM-CS:cardiovascularheart > PAROXYSMAL ATRIAL FIBRILLATION (IN SOME PATIENTS) OMIM:617280 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617280 ATRIAL FIBRILLATION, FAMILIAL, 18 HP:0004754 Permanent atrial fibrillation IEA IEA rare OMIM-CS:cardiovascularheart > PERMANENT ATRIAL FIBRILLATION (IN SOME PATIENTS) OMIM:617280 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617280 ATRIAL FIBRILLATION, FAMILIAL, 18 HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:617280 HPO:skoehler 13.07.2017 ...filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:136630 MENTAL RETARDATION, FRA12A TYPE HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:136630 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:136630 MENTAL RETARDATION, FRA12A TYPE HP:0003812 Phenotypic variability IEA IEA OMIM-CS:miscellaneous > VARIABLE PHENOTYPE OMIM:136630 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:136630 MENTAL RETARDATION, FRA12A TYPE HP:0001250 Seizures IEA IEA rare OMIM-CS:neurologiccentralnervoussystem > SEIZURES (IN SOME PATIENTS) OMIM:136630 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:136630 MENTAL RETARDATION, FRA12A TYPE HP:0000962 Hyperkeratosis IEA IEA OMIM-CS:skinnailshairskin > HYPERKERATOSIS (IN 1 PATIENT) OMIM:136630 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617297 AMELOGENESIS IMPERFECTA, TYPE IJ HP:0011094 Overbite IEA IEA rare OMIM-CS:headandneckteeth > DEEP OVERBITE (IN SOME PATIENTS) OMIM:617297 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617297 AMELOGENESIS IMPERFECTA, TYPE IJ HP:0000670 Carious teeth IEA IEA rare OMIM-CS:headandneckteeth > DENTAL CARIES (IN SOME PATIENTS) OMIM:617297 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617297 AMELOGENESIS IMPERFECTA, TYPE IJ HP:0010299 Abnormality of dentin IEA IEA NOT NOT OMIM-CS:headandneckteeth > NORMAL DENTIN OMIM:617297 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617297 AMELOGENESIS IMPERFECTA, TYPE IJ HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617297 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617396 ANAUXETIC DYSPLASIA 2 HP:0011800 Midface retrusion IEA IEA OMIM-CS:headandneckface > MIDFACE HYPOPLASIA OMIM:617396 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617396 ANAUXETIC DYSPLASIA 2 HP:0004482 Relative macrocephaly IEA IEA rare OMIM-CS:headandneckhead > RELATIVE MACROCEPHALY (IN SOME PATIENTS) OMIM:617396 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617396 ANAUXETIC DYSPLASIA 2 HP:0000158 Macroglossia IEA IEA rare OMIM-CS:headandneckmouth > MACROGLOSSIA (RARE) OMIM:617396 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617396 ANAUXETIC DYSPLASIA 2 HP:0000470 Short neck IEA IEA rare OMIM-CS:headandneckneck > SHORT NECK (RARE) OMIM:617396 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617396 ANAUXETIC DYSPLASIA 2 HP:0000668 Hypodontia IEA IEA rare OMIM-CS:headandneckteeth > HYPODONTIA (RARE) OMIM:617396 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617396 ANAUXETIC DYSPLASIA 2 HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:617396 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617396 ANAUXETIC DYSPLASIA 2 HP:0002750 Delayed skeletal maturation IEA IEA OMIM-CS:skeletal > DELAYED BONE AGE OMIM:617396 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617396 ANAUXETIC DYSPLASIA 2 HP:0001156 Brachydactyly IEA IEA OMIM-CS:skeletalhands > BRACHYDACTYLY OMIM:617396 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617396 ANAUXETIC DYSPLASIA 2 HP:0002967 Cubitus valgus IEA IEA OMIM-CS:skeletallimbs > CUBITUS VALGUS OMIM:617396 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617396 ANAUXETIC DYSPLASIA 2 HP:0008802 Hypoplasia of the femoral head IEA IEA OMIM-CS:skeletallimbs > HYPOPLASTIC FEMORAL HEAD OMIM:617396 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617396 ANAUXETIC DYSPLASIA 2 HP:0100864 Short femoral neck IEA IEA OMIM-CS:skeletallimbs > HYPOPLASTIC FEMORAL NECK OMIM:617396 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617396 ANAUXETIC DYSPLASIA 2 HP:0002673 Coxa valga IEA IEA rare OMIM-CS:skeletalpelvis > COXA VALGA (IN SOME PATIENTS) OMIM:617396 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617396 ANAUXETIC DYSPLASIA 2 HP:0002812 Coxa vara IEA IEA OMIM-CS:skeletalpelvis > COXA VARA OMIM:617396 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617396 ANAUXETIC DYSPLASIA 2 HP:0008824 Hypoplastic iliac body IEA IEA OMIM-CS:skeletalpelvis > HYPOPLASTIC ILIAC BODIES OMIM:617396 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617396 ANAUXETIC DYSPLASIA 2 HP:0010646 Cervical spine instability IEA IEA rare OMIM-CS:skeletalspine > CERVICAL SPINE INSTABILITY (IN SOME PATIENTS) OMIM:617396 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617396 ANAUXETIC DYSPLASIA 2 HP:0003300 Ovoid vertebral bodies IEA IEA OMIM-CS:skeletalspine > OVOID VERTEBRAL BODIES OMIM:617396 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617396 ANAUXETIC DYSPLASIA 2 HP:0003423 Thoracolumbar kyphoscoliosis IEA IEA OMIM-CS:skeletalspine > THORACOLUMBAR KYPHOSCOLIOSIS OMIM:617396 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617396 ANAUXETIC DYSPLASIA 2 HP:0008070 Sparse hair IEA IEA rare OMIM-CS:skinnailshairhair > SPARSE HAIR (RARE) OMIM:617396 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617396 ANAUXETIC DYSPLASIA 2 HP:0002164 Nail dysplasia IEA IEA rare OMIM-CS:skinnailshairnails > DYSPLASTIC NAILS (RARE) OMIM:617396 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617396 ANAUXETIC DYSPLASIA 2 HP:0001792 Small nail IEA IEA rare OMIM-CS:skinnailshairnails > SMALL NAILS (RARE) OMIM:617396 HPO:skoehler 13.07.2017 ......filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:615735 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE HP:0025092 Epidermal acanthosis IEA IEA OMIM-CS:skinnailshairskinhistology > ACANTHOSIS OMIM:615735 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614885 PEROXISOME BIOGENESIS DISORDER 11B HP:0000365 Hearing impairment IEA IEA OMIM-CS:headandneckears > HEARING LOSS OMIM:614885 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614885 PEROXISOME BIOGENESIS DISORDER 11B HP:0000518 Cataract IEA IEA OMIM-CS:headandneckeyes > CATARACT OMIM:614885 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614885 PEROXISOME BIOGENESIS DISORDER 11B HP:0000007 Autosomal recessive inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL RECESSIVE OMIM:614885 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614885 PEROXISOME BIOGENESIS DISORDER 11B HP:0001290 Generalized hypotonia IEA IEA MODIFIER:PROGRESSIVE;OMIM-CS:musclesofttissue > HYPOTONIA, PROGRESSIVE OMIM:614885 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:614885 PEROXISOME BIOGENESIS DISORDER 11B HP:0003323 Progressive muscle weakness IEA IEA OMIM-CS:musclesofttissue > MUSCLE WEAKNESS, PROGRESSIVE OMIM:614885 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300852 MENTAL RETARDATION, X-LINKED 88 HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DEVELOPMENTAL DELAY OMIM:300852 HPO:skoehler 13.07.2017 ..filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:256040 AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME HP:0025131 Finger swelling IEA IEA OMIM-CS:skeletalhands > FINGER SWELLING OMIM:256040 HPO:skoehler 13.07.2017 .....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617537 RAHMAN SYNDROME HP:0000646 Amblyopia IEA IEA OMIM-CS:headandneckeyes > AMBLYOPIA OMIM:617537 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617537 RAHMAN SYNDROME HP:0000483 Astigmatism IEA IEA OMIM-CS:headandneckeyes > ASTIGMATISM OMIM:617537 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617537 RAHMAN SYNDROME HP:0000486 Strabismus IEA IEA OMIM-CS:headandneckeyes > STRABISMUS OMIM:617537 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617537 RAHMAN SYNDROME HP:0000506 Telecanthus IEA IEA OMIM-CS:headandneckeyes > TELECANTHUS OMIM:617537 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617537 RAHMAN SYNDROME HP:0000293 Full cheeks IEA IEA OMIM-CS:headandneckface > FULL CHEEKS OMIM:617537 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617537 RAHMAN SYNDROME HP:0000256 Macrocephaly IEA IEA OMIM-CS:headandneckhead > LARGE HEAD CIRCUMFERENCE OMIM:617537 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617537 RAHMAN SYNDROME HP:0000006 Autosomal dominant inheritance IEA IEA OMIM-CS:inheritance > AUTOSOMAL DOMINANT OMIM:617537 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617537 RAHMAN SYNDROME HP:0001276 Hypertonia HP:0003623 Neonatal onset IEA IEA OMIM-CS:musclesofttissue > HYPERTONIA, NEONATAL OMIM:617537 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617537 RAHMAN SYNDROME HP:0001319 Neonatal hypotonia IEA IEA OMIM-CS:musclesofttissue > HYPOTONIA, NEONATAL OMIM:617537 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617537 RAHMAN SYNDROME HP:0001263 Global developmental delay IEA IEA OMIM-CS:neurologiccentralnervoussystem > DELAYED DEVELOPMENT OMIM:617537 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617537 RAHMAN SYNDROME HP:0001249 Intellectual disability IEA IEA OMIM-CS:neurologiccentralnervoussystem > INTELLECTUAL DISABILITY, MILD TO SEVERE OMIM:617537 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617537 RAHMAN SYNDROME HP:0005616 Accelerated skeletal maturation IEA IEA OMIM-CS:skeletal > ADVANCED BONE AGE OMIM:617537 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617537 RAHMAN SYNDROME HP:0001762 Talipes equinovarus IEA IEA OMIM-CS:skeletalfeet > TALIPES EQUINOVARUS OMIM:617537 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617537 RAHMAN SYNDROME HP:0012385 Camptodactyly IEA IEA OMIM-CS:skeletalhands > CAMPTODACTYLY OMIM:617537 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617537 RAHMAN SYNDROME HP:0002751 Kyphoscoliosis IEA IEA OMIM-CS:skeletalspine > KYPHOSCOLIOSIS OMIM:617537 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:617537 RAHMAN SYNDROME HP:0003764 Nevus IEA IEA OMIM-CS:skinnailshairskin > NEVI OMIM:617537 HPO:skoehler 13.07.2017 ....filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300842 MCLEOD SYNDROME HP:0001433 Hepatosplenomegaly IEA IEA rare OMIM-CS:abdomenliver > HEPATOSPLENOMEGALY (IN SOME PATIENTS) OMIM:300842 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300842 MCLEOD SYNDROME HP:0001433 Hepatosplenomegaly IEA IEA rare OMIM-CS:abdomenspleen > HEPATOSPLENOMEGALY (IN SOME PATIENTS) OMIM:300842 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300842 MCLEOD SYNDROME HP:0005110 Atrial fibrillation IEA IEA OMIM-CS:cardiovascularheart > ATRIAL FIBRILLATION OMIM:300842 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300842 MCLEOD SYNDROME HP:0001644 Dilated cardiomyopathy IEA IEA OMIM-CS:cardiovascularheart > DILATED CARDIOMYOPATHY (IN 60% OF PATIENTS) OMIM:300842 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300842 MCLEOD SYNDROME HP:0001417 X-linked inheritance IEA IEA OMIM-CS:inheritance > X-LINKED OMIM:300842 HPO:skoehler 13.07.2017 filter this Thu Jul 13 00:00:00 CEST 2017 OMIM:300842 MCLEOD SYNDROME HP:0003201 Rhabdomyolysis IEA IEA