Pontocerebellar hypoplasia type 1B

MONDO:0013853

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene.

Also known as: EXOSC3 non-syndromic pontocerebellar hypoplasia, non-syndromic pontocerebellar hypoplasia caused by mutation in EXOSC3, pontocerebellar hypoplasia type 1B, PCH1B, pontocerebellar hypoplasia, type 1B

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