Gemignani syndrome
MeSH: C537678ORPHA: 2074
Overview
human disease
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 Gemignani syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormal testis morphologySensorineural hearing impairmentDelayed pubertyHypopigmented skin patchesIntellectual disabilityAtaxiaHyperreflexiaSkeletal muscle atrophyEMG abnormalityShort statureHemiplegia/hemiparesisImpaired pain sensationHypoplasia of penis
Classification & Codes
MeSH Code
C537678Orphanet Code
ORPHA:2074Gemignani syndrome
| MeSH | C537678 |
| Orphanet | ORPHA:2074 |
| Treatments | 0 drug(s) |
| Symptoms on record | 13 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO