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Pontocerebellar hypoplasia type 4
rarePontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.
- Identifiers
- MONDO:0009166 OMIM:225753Orphanet:166063
- Causal genes
- TSEN54
- Part of
- Pontocerebellar hypoplasia
- Also known as
- encephalopathy fatal infantile with olivopontocerebellar hypoplasia · fatal infantile encephalopathy with olivopontocerebellar hypoplasia · olivopontocerebellar hypoplasia · PCH4 · pontocerebellar hypoplasia, type 4
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