KAT6A, lysine acetyltransferase 6A, 7994

N. diseases: 129; N. variants: 13
Disease: Delayed speech and language development ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 CausalMutation phenotype CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777 2015