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
05611 NDD neurodevelopmental disorder (NDD) - - 4410 4229 ACBD6, ADARB1, AP1G1, ARFGEF1, ATP9A, CAMK2D, CAMSAP1, CAPRIN1, CASP2, CHASERR, CLCN3, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, EEFSEC, EIF2C1, 91 more - -
04106 PCH2E hypoplasia, pontocerebellar, type 2e (PCH2E) 615851 AR - - VPS53 - -
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