46,XX disorder of sex development-skeletal anomalies syndrome
MONDO:0009915Mondo
Findings
No curated finding names 46,XX disorder of sex development-skeletal anomalies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
9 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 genitalia, femaleHPOHP:0000061
- Obligate (100% of cases)
- Deformed humerusHPOHP:0003871
- Obligate (100% of cases)
- Dislocated radial headHPOHP:0003083
- Obligate (100% of cases)
- Fused labia minoraHPOHP:0000063
- Obligate (100% of cases)
- Hypoplasia of the premaxillaHPOHP:0010650
- Obligate (100% of cases)
- Increased size of the clitorisHPOHP:0040253
- Obligate (100% of cases)
- Mandibular condyle hypoplasiaHPOHP:0007628
- Obligate (100% of cases)
- MicrognathiaHPOHP:0000347
- Obligate (100% of cases)
- Primary amenorrheaHPOHP:0000786
- Obligate (100% of cases)
Reported absent (3)
- Abnormal vagina morphologyHPOHP:0000142
- Abnormality of the ovaryHPOHP:0000137
- Abnormality of the uterusHPOHP:0000130
Where it sits
- A kind of
Other names
1 name
Resolves to: 46,XX disorder of sex development-skeletal anomalies syndrome
- Also called
- female pseudohermaphroditism-skeletal anomalies syndrome