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Pontocerebellar hypoplasia, type 2F

rare

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene.

Identifiers
MONDO:0014874 OMIM:617026
Causal genes
TSEN15
Part of
Pontocerebellar hypoplasia type 2
Also known as
non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN15 · PCH2F · pontocerebellar hypoplasia, type 2F; PCH2F · TSEN15 non-syndromic pontocerebellar hypoplasia

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