46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
MONDO:0013664Mondo
Findings
No curated finding names 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- AKR1C2HGNC:385
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Limited · PanelApp Australia · Autosomal recessive · 2025
- AKR1C4HGNC:387
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
- Also called
- 46,XY sex reversal type 846XY sex reversal 846XY sex reversal 8, modifier of