muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
MONDO:0017932Mondo
Findings
No curated finding names muscular hypertrophy-hepatomegaly-polyhydramnios syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
14 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 cerebellum morphologyHPOHP:0001317
- Obligate (100% of cases)
- Muscular dystrophyHPOHP:0003560
- Obligate (100% of cases)
- Retinal dysplasiaHPOHP:0007973
- Obligate (100% of cases)
- HydrocephalusHPOHP:0000238
- Very frequent (80% to 99% of cases)
- Ocular anterior segment dysgenesisHPOHP:0007700
- Very frequent (80% to 99% of cases)
- Orofacial cleftHPOHP:0000202
- Very frequent (80% to 99% of cases)
- Type II lissencephalyHPOHP:0007260
- Very frequent (80% to 99% of cases)
- VentriculomegalyHPOHP:0002119
- Very frequent (80% to 99% of cases)
- Abnormality of the genital systemHPOHP:0000078
- Frequent (30% to 79% of cases)
- Macrocephaly at birthHPOHP:0004488
- Frequent (30% to 79% of cases)
- Developmental cataractHPOHP:0000519
- Occasional (5% to 29% of cases)
- MicrophthalmiaHPOHP:0000568
- Occasional (5% to 29% of cases)
Show the remaining 2
- Occipital encephaloceleHPOHP:0002085
- Occasional (5% to 29% of cases)
- ColobomaHPOHP:0000589
- Very rare (1% to 4% of cases)