muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
ORPHA: 324416
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 muscular hypertrophy-hepatomegaly-polyhydramnios syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormal cerebellum morphologyMuscular dystrophyRetinal dysplasiaOrofacial cleftHydrocephalusVentriculomegalyType II lissencephalyOcular anterior segment dysgenesisAbnormality of the genital systemMacrocephaly at birthDevelopmental cataractMicrophthalmiaOccipital encephaloceleColoboma
Classification & Codes
Orphanet Code
ORPHA:324416muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
| Orphanet | ORPHA:324416 |
| Treatments | 0 drug(s) |
| Symptoms on record | 14 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO