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Pontocerebellar hypoplasia type 2E
rareAny non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene.
- Identifiers
- MONDO:0014370 OMIM:615851
- Causal genes
- VPS53
- Part of
- Pontocerebellar hypoplasia
- Also known as
- non-syndromic pontocerebellar hypoplasia caused by mutation in VPS53 · PCH2E · pontocerebellar hypoplasia, type 2E · VPS53 non-syndromic pontocerebellar hypoplasia
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