SRD5A2:Ensemblv115

steroid 5 alpha-reductase 2
OMIM: 607306, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green SRD5A2 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Pseudovaginal perineoscrotal hypospadias, MIM# 264600