46,XY sex reversal 5
MONDO:0013120Mondo
Findings
No curated finding names 46,XY sex reversal 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
5 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
- Sex reversalHPOHP:0012245
- 1 of 1 reported patient
- Abnormal circulating luteinizing hormone concentrationHPOHP:0030345
- 0 of 1 reported patient
- Abnormal female external genitalia morphologyHPOHP:0000055
- 0 of 1 reported patient
- Abnormality of circulating cortisol levelHPOHP:0011731
- 0 of 1 reported patient
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.
- CBX2HGNC:1552
- Limited · Ambry Genetics · Semidominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
2 names
Resolves to: 46,XY sex reversal 5
- Also called
- 46,XY Sex reversal type 546XY sex reversal 5