Pontocerebellar hypoplasia type 2B
MONDO:0012890Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene.
Also known as: TSEN2 non-syndromic pontocerebellar hypoplasia, non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN2, pontocerebellar hypoplasia type 2B, PCH2B, pontocerebellar hypoplasia, type 2B
10 clinical trials for this condition and its sub-types.
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