All diseases

2 entries on 1 page. Showing entries 1 - 2.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00139 ID intellectual disability (ID) - - 2695 2377 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
06996 NDD-NAE1 NDD-NAE1 - AR - - NAE1 - short stature; facial abnormalities; wide nasal bridge; long philtrum; anteverted nares; large ears; epicanthal folds; broad philtrum; lymphopenia; recurrent infections; ischiopubic hypoplasia; neurological abnormalities; seizures; 1y-onset seizures; seizure triggered by fever; psychomotor development stagnates; mental decline; learning disabilities; MRI global brain atrophy; muscle weakness; dysgenesis hippocampus
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