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Pontocerebellar hypoplasia type 2B
rareAny non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene.
- Identifiers
- MONDO:0012890 OMIM:612389
- Causal genes
- TSEN2
- Also known as
- non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN2 · PCH2B · pontocerebellar hypoplasia, type 2B · TSEN2 non-syndromic pontocerebellar hypoplasia
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