46,XY sex reversal 6
MONDO:0013410Mondo
Findings
No curated finding names 46,XY sex reversal 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant 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.
- Gonadal dysgenesisHPOHP:0000133
- 13 of 13 reported patients
- Sex reversalHPOHP:0012245
- 12 of 17 reported patients
- HypospadiasHPOHP:0000047
- 4 of 17 reported patients
- Clitoral hypertrophyHPOHP:0008665
- 1 of 17 reported patients
- DysgerminomaHPOHP:0100621
- 1 of 17 reported patients
- GonadoblastomaHPOHP:0000150
- 1 of 17 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.
- MAP3K1HGNC:6848
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: 46,XY sex reversal 6
- Also called
- 46,XY Sex reversal type 646XY sex reversal 6