hypogonadism-mitral valve prolapse-intellectual disability syndrome
MeSH: C537981ORPHA: 2233
Overview
This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with hypogonadism-mitral valve prolapse-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormal testis morphologyHypogonadismDecreased fertilityHigh palateShort neckGynecomastiaMild intellectual disabilityObesityLow posterior hairlineShort statureAbnormal metacarpal morphologyAbnormal hair quantityAbnormal morphology of ulnaDownslanted palpebral fissuresMitral valve prolapse
Classification & Codes
MeSH Code
C537981Orphanet Code
ORPHA:2233hypogonadism-mitral valve prolapse-intellectual disability syndrome
| MeSH | C537981 |
| Orphanet | ORPHA:2233 |
| Treatments | 0 drug(s) |
| Symptoms on record | 15 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO