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Pontocerebellar hypoplasia type 2D
rareAny non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the SEPSECS gene.
- Identifiers
- MONDO:0013438 OMIM:613811
- Causal genes
- SEPSECS
- Also known as
- non-syndromic pontocerebellar hypoplasia caused by mutation in SEPSECS · PCH2D · pontocerebellar hypoplasia, type 2D · SEPSECS non-syndromic pontocerebellar hypoplasia
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