CHANARIN-DORFMAN SYNDROME or
Severe Neurodevelopmental Syndrome
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. (Nat Genet 50: 1442-1451, 2018)
Look up phenotypes associated with MSL3 in Decipher
List of phenotypes that have been assigned to the G2P entry.