Pontocerebellar hypoplasia type 1B
MONDO:0013853Any 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
11 clinical trials for this condition and its sub-types, 0 tagged with Pontocerebellar hypoplasia type 1B itself.
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