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Pontocerebellar hypoplasia type 1A

rare

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene.

Identifiers
MONDO:0011866 OMIM:607596
Causal genes
VRK1
Part of
Pontocerebellar hypoplasia type 1
Also known as
non-syndromic pontocerebellar hypoplasia caused by mutation in VRK1 · PCH1A · pontocerebellar hypoplasia, type 1A · VRK1 non-syndromic pontocerebellar hypoplasia

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