Pontocerebellar hypoplasia type 2C

MONDO:0012891

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene.

Also known as: TSEN34 non-syndromic pontocerebellar hypoplasia, non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN34, PCH2C, pontocerebellar hypoplasia, type 2C

29 clinical trials for this condition and its sub-types.

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