KAT6B, lysine acetyltransferase 6B, 23522

N. diseases: 208; N. variants: 27
Disease: Mental Retardation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.010 Biomarker disease BEFREE The few reported patients with KAT6B haploinsufficiency had a much milder phenotype, though with some features overlapping those of SBBS. 25424711 2015