rs786200952, KAT6A

N. diseases: 13
Disease: Narrow forehead ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Narrow forehead
CUI: C1839758
Disease: Narrow forehead
0.700 CausalMutation CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777 2015