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Pontocerebellar hypoplasia type 2C
rareAny non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene.
- Identifiers
- MONDO:0012891 OMIM:612390
- Causal genes
- TSEN34
- Also known as
- non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN34 · PCH2C · pontocerebellar hypoplasia, type 2C · TSEN34 non-syndromic pontocerebellar hypoplasia
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