Pontocerebellar hypoplasia, type 2F

MONDO:0014874

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

Also known as: PCH2F, TSEN15 non-syndromic pontocerebellar hypoplasia, non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN15, pontocerebellar hypoplasia, type 2F, pontocerebellar hypoplasia, type 2F; PCH2F

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