EXOSC3 non-syndromic pontocerebellar hypoplasianon-syndromic pontocerebellar hypoplasia caused by mutation in EXOSC3pontocerebellar hypoplasia type 1BPCH1Bpontocerebellar hypoplasia, type 1B
Definition
Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene.
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