HHAT, hedgehog acyltransferase, 55733

N. diseases: 75; N. variants: 5
Disease: Sex Differentiation Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2930619
Disease: Sex Differentiation Disorders
Sex Differentiation Disorders 		0.010 GeneticVariation group BEFREE In the present study, we report a unique case of autosomal recessive syndromic 46,XY Disorder of Sex Development (DSD) with testicular dysgenesis and chondrodysplasia resulting from a homozygous G287V missense mutation in the hedgehog acyl-transferase (HHAT) gene. 24784881 2014