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Pontocerebellar hypoplasia type 9
rareAny non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene.
- Identifiers
- MONDO:0014351 OMIM:615809Orphanet:369920
- Causal genes
- AMPD2
- Part of
- Pontocerebellar hypoplasia
- Also known as
- AMPD2 non-syndromic pontocerebellar hypoplasia · non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2 · PCH9 · pontocerebellar hypoplasia, type 9
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