All diseases

3 entries on 1 page. Showing entries 1 - 3.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00182 BFNS1 seizures, benign neonatal, type 1 (BFNS-1) 121200 AD 30 30 KCNQ2 - -
00183 DEE7 encephalopathy, developmental and epileptic, type 7 613720 AD 24 19 KCNQ2 - -
00139 ID intellectual disability (ID) - - 2799 2480 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 556 more - -
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