MSL3, MSL complex subunit 3, 10943

N. diseases: 32; N. variants: 9
Disease: Neurodevelopmental delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.300 Biomarker phenotype GENOMICS_ENGLAND De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. 30224647 2018