RGDs registry under the 'Reproductive disorders'
| S.No. | Genetic Disorders | Aliases | Sub-Category | Gene symbol | Links | Indian context |
| 1 | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
•Steroid 5-alpha-reductase 2 deficiency •46,XY DSD due to 5-alpha-reductase 2 deficiency • Pseudovaginal perineoscrotal hypospadias •Familial incomplete male pseudohermaphroditism, type 2 •Male pseudohermaphroditism due to 5-alpha-reductase deficiency |
Gonadal disorders |
SRD5A2 steroid 5 alpha-reductase 2 |
PubMed | Reports |
| 2 | 46,XY sex reversal 1 |
•Swyer syndrome •46,XY complete gonadal dysgenesis •Pure gonadal dysgenesis 46,XY •46, XY CGD •46, XY pure gonadal dysgenesis •46,XY sex reversal •Gonadal dysgenesis, XY female type |
Sexual differenciation disorders |
SRY sex determining region Y SOX9 SRY-box transcription factor 9 DHX37 DEAH-box helicase 37 |
PubMed | Reports |
|
|