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
00743 LCCS3 contracture syndrome, lethal, congenital, type 3 (LCCS-3) 611369 AR - - PIP5K1C - severe joint contractures, muscle atrophy, respiratory insufficiency
05611 NDD neurodevelopmental disorder (NDD) - - 3531 3346 ACBD6, ADARB1, AP1G1, ARFGEF1, ATP9A, CAMSAP1, CAPRIN1, CASP2, CHASERR, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, EEFSEC, EIF2C1, EIF2C2, EIF4A2, 70 more - -
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