46,XX sex reversal 4
MONDO:0060489Mondo
Findings
No curated finding names 46,XX sex reversal 4 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
8 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.
- OvotestisHPOHP:0012861
- 2 of 4 reported patients
- Ambiguous genitaliaHPOHP:0000062
- 2 of 6 reported patients · Congenital onset
- Clitoral hypertrophyHPOHP:0008665
- 1 of 6 reported patients
- Fused labia majoraHPOHP:0025486
- 1 of 6 reported patients
- MicropenisHPOHP:0000054
- 1 of 6 reported patients
- Penoscrotal hypospadiasHPOHP:0000808
- 1 of 6 reported patients · Congenital onset
- Retractile testisHPOHP:0012646
- 1 of 6 reported patients
- Gonadal dysgenesisHPOHP:0000133
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.
- NR5A1HGNC:7983
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
Where it sits
Other names
1 name
Resolves to: 46,XX sex reversal 4
- Also called
- 46, XX sex reversal 4