46,XY sex reversal 4
MONDO:0007938Mondo
Findings
No curated finding names 46,XY sex reversal 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Sex reversal in an individual associated with a 9p24.3 deletion.
Definition from the Mondo Disease Ontology (MONDO:0007938), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
26 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.
- Depressed nasal ridgeHPOHP:0000457
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- High palateHPOHP:0000218
- 2 of 2 reported patients
- Sex reversalHPOHP:0012245
- 2 of 2 reported patients
- TrigonocephalyHPOHP:0000243
- 2 of 2 reported patients
- Upslanted palpebral fissureHPOHP:0000582
- 2 of 2 reported patients
- AgonadismHPOHP:0008633
Show the remaining 14
- HydronephrosisHPOHP:0000126
- 1 of 2 reported patients
- Hypergonadotropic hypogonadismHPOHP:0000815
- 1 of 2 reported patients
- Hypoplasia of the uterusHPOHP:0000013
- 1 of 2 reported patients
- Hypoplastic labia majoraHPOHP:0000059
- 1 of 2 reported patients
- Increased blood urea nitrogenHPOHP:0003138
- 1 of 2 reported patients
- Long philtrumHPOHP:0000343
- 1 of 2 reported patients
Where it sits
Other names
2 names
Resolves to: 46,XY sex reversal 4
- Also called
- 46,XY Sex reversal type 446XY sex reversal 4, Isolated cases