3-Oxo-5 Alpha-steroid Delta 4-dehydrogenase Deficiency(Steroid 5-alpha-reductase 2 deficiency) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Reproductive disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Reproductive disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | SRD5A2/6716 | steroid 5 alpha-reductase 2 | 2p23.1 | Chr2, NC_000002.12 (31522480..31663009, complement) |
140530 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |