46,XY sex reversal 9
MONDO:0014480Mondo
Findings
No curated finding names 46,XY sex reversal 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
4 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.
- Gonadal dysgenesisHPOHP:0000133
- 2 of 2 reported patients
- Sex reversalHPOHP:0012245
- 2 of 2 reported patients
- Ambiguous genitaliaHPOHP:0000062
- 1 of 2 reported patients
- Fused labia minoraHPOHP:0000063
- 1 of 2 reported patients
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.
- ZFPM2HGNC:16700
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Disputed Evidence · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: 46,XY sex reversal 9
- Also called
- 46,XY Sex reversal type 946XY sex reversal 9