KAT6B, lysine acetyltransferase 6B, 23522

N. diseases: 208; N. variants: 27
Disease: Global developmental delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 Biomarker disease BEFREE With ptosis, hypotonia, and developmental delay as the main diagnostic features of our patient, the effect of histone acetyltransferase-encoding KAT6B gene haploinsufficiency was suspected to have a significant role in determining the phenotype. 27880066 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 Biomarker disease BEFREE Additionally, KAT6B and C10orf11 could represent disease-associated genes that contribute to developmental delay, speech and language delay, and congenital cleft palate. 27031267 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 CausalMutation disease CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 Biomarker disease HPO