hypogonadism-mitral valve prolapse-intellectual disability syndrome
MONDO:0016385Mondo
Findings
No curated finding names hypogonadism-mitral valve prolapse-intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature.
Definition from the Mondo Disease Ontology (MONDO:0016385), read 2026-09-29. CC BY 4.0.
Features
15 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 hair quantityHPOHP:0011362
- Very frequent (80% to 99% of cases)
- Abnormal metacarpal morphologyHPOHP:0005916
- Very frequent (80% to 99% of cases)
- Abnormal morphology of ulnaHPOHP:0040071
- Very frequent (80% to 99% of cases)
- Abnormal testis morphologyHPOHP:0000035
- Very frequent (80% to 99% of cases)
- Decreased fertilityHPOHP:0000144
- Very frequent (80% to 99% of cases)
- GynecomastiaHPOHP:0000771
- Very frequent (80% to 99% of cases)
- High palateHPOHP:0000218
- Very frequent (80% to 99% of cases)
- HypogonadismHPOHP:0000135
- Very frequent (80% to 99% of cases)
- Low posterior hairlineHPOHP:0002162
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Very frequent (80% to 99% of cases)
- ObesityHPOHP:0001513
- Very frequent (80% to 99% of cases)
- Short neckHPOHP:0000470
- Very frequent (80% to 99% of cases)
Show the remaining 3
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
- Mitral valve prolapseHPOHP:0001634
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: hypogonadism-mitral valve prolapse-intellectual disability syndrome
- Also called
- Cantalamessa-Baldini-Ambrosi syndrome