male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
Findings
No curated finding names male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
Definition from the Mondo Disease Ontology (MONDO:0010617), read 2026-09-29. CC BY 4.0.
Features
19 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.
- Abnormal vertebral body morphologyHPOHP:0003312
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- Very frequent (80% to 99% of cases)
- Decreased fertilityHPOHP:0000144
- Very frequent (80% to 99% of cases)
- Decreased testicular sizeHPOHP:0008734
- Very frequent (80% to 99% of cases)
- Eunuchoid habitusHPOHP:0003782
- Very frequent (80% to 99% of cases)
- GynecomastiaHPOHP:0000771
- Very frequent (80% to 99% of cases)
- Hemivertebrae
Show the remaining 7
- Abnormal rib morphologyHPOHP:0000772
- Frequent (30% to 79% of cases)
- Abnormality of the humeroulnar jointHPOHP:0100745
- Frequent (30% to 79% of cases)
- Abnormality of the thyroid glandHPOHP:0000820
- Frequent (30% to 79% of cases)
- ObesityHPOHP:0001513
- Frequent (30% to 79% of cases)
- Short neckHPOHP:0000470
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
- Also called
- Sohval-Soffer syndrome