Pseudovaginal perineoscrotal hypospadias
OMIM:264600Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | SRD5A2 |
|---|---|
| Reference transcript | NM_000348.3 |
| DNA Change | c.122_123delAG |
| A.A. Change | p.Lys41ThrfsX94 |
| Exon/Intron | exon 1 |
| Mutation Type | deletion |
| Reference | Maimoun L, Philibert P, Cammas B, Audran F, Pienkowski C, Kurtz F, Heinrich C, Cartigny M, Sultan C.Undervirilization in XY newborns may hide a 5?-reductase deficiency: report of three new SRD5A2 gene mutations. Int J Androl. 2010 Dec;33(6):841-7. |
| Gene Symbol | SRD5A2 |
|---|---|
| Reference transcript | NM_000348.3 |
| DNA Change | c.344G>A |
| A.A. Change | p.Gly115Asp |
| Exon/Intron | exon 2 |
| Mutation Type | substitution |
| Reference | Maimoun L, Philibert P, Cammas B, Audran F, Pienkowski C, Kurtz F, Heinrich C, Cartigny M, Sultan C.Undervirilization in XY newborns may hide a 5?-reductase deficiency: report of three new SRD5A2 gene mutations. Int J Androl. 2010 Dec;33(6):841-7. |