46,xx sex reversal 5
MONDO:0030049Mondo
Findings
No curated finding names 46,xx sex reversal 5 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
7 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.
- Ambiguous genitaliaHPOHP:0000062
- 3 of 3 reported patients
- Increased serum testosterone levelHPOHP:0030088
- 3 of 3 reported patients
- Aplasia of the left hemidiaphragmHPOHP:0009112
- 1 of 3 reported patients
- Hypoplastic left ventricleHPOHP:0004383
- 1 of 3 reported patients
- Secundum atrial septal defectHPOHP:0001684
- 1 of 3 reported patients
- Urogenital sinus anomalyHPOHP:0100779
- 1 of 3 reported patients
- Ventricular septal defectHPOHP:0001629
- 1 of 3 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.
- NR2F2HGNC:7976
- Definitive · G2P · Autosomal dominant · 2019
Where it sits
- A kind of
Other names
1 name
Resolves to: 46,xx sex reversal 5
- Also called
- SRXX5