All diseases

4 entries on 1 page. Showing entries 1 - 4.
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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 - -
00087 MALNS;SOTOS2 Malan syndrome (previously SOTOS2) 614753 AD 60 4 NFIX - -
00086 MRSHSS Marshall-Smith syndrome (MRSHSS) 602535 AD 18 18 NFIX - -
05245 SOTOS Sotos syndrome (SOTOS) - - 160 65 APC2, NFIX, NSD1 - neurological disorder characterized by overgrowth (prenatal stage through childhood), advanced bone age, unusual face with large skull, acromegalic features and pointed chin, occasional brain anomalies, seizures, mental retardation
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