Pontocerebellar hypoplasia type 2C

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

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