Pontocerebellar hypoplasia type 2E

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene.

Also known as: VPS53 non-syndromic pontocerebellar hypoplasia, non-syndromic pontocerebellar hypoplasia caused by mutation in VPS53, pontocerebellar hypoplasia type 2E, PCH2E, pontocerebellar hypoplasia, type 2E

1 clinical trial for this condition and its sub-types, 0 tagged with Pontocerebellar hypoplasia type 2E itself.