pontocerebellar hypoplasia type 2E
Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene.
MONDO:0020135
pontocerebellar hypoplasia
is_a
PCH2E
related
VPS53 non-syndromic pontocerebellar hypoplasia
exact
non-syndromic pontocerebellar hypoplasia caused by mutation in VPS53
exact
pontocerebellar hypoplasia type 2E
exact
pontocerebellar hypoplasia, type 2E
related
SPAC3A12.15