HDAC5

The protein deacetylates lysine residues on core histones and represses transcription of genes including myocyte enhancer factor MEF2C, playing a critical role in muscle maturation and epigenetic regulation. Pathogenic variants cause a neurodevelopmental disorder with intellectual disability, developmental delay, and distinctive facial features through an autosomal dominant inheritance pattern. The mechanism of pathogenicity is loss of function, as the gene is extremely intolerant to loss-of-function variants.