46,XY sex reversal 1
MONDO:0020712Mondo
Findings
No curated finding names 46,XY sex reversal 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Y-linked inheritance
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated circulating follicle stimulating hormone levelHPOHP:0008232
- 1 of 1 reported patient
- Elevated circulating luteinizing hormone levelHPOHP:0011969
- 1 of 1 reported patient
- Gonadal dysgenesis with female appearance, maleHPOHP:0008723
- 1 of 1 reported patient
- Hypergonadotropic hypogonadismHPOHP:0000815
- 1 of 1 reported patient
- Sex reversalHPOHP:0012245
- 1 of 1 reported patient
- Ambiguous genitaliaHPOHP:0000062
Genes
1 gene
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.
- SRYHGNC:11311
- Definitive · G2P · Y-linked inheritance · 2024
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
- A kind of
Other names
6 names
Resolves to: 46,XY sex reversal 1
- Also called
- 46,XY gonadal dysgenesis, complete, SRY-related46,XY sex reversal type 146,XY sex reversal, SRY-related46,XY true hermaphroditism, SRY-related46XY sex reversal 1, Y-linkedSRXY1