pontocerebellar hypoplasia type 1A
Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene.
MONDO:0016396
pontocerebellar hypoplasia type 1
is_a
PCH1A
related
VRK1 non-syndromic pontocerebellar hypoplasia
exact
non-syndromic pontocerebellar hypoplasia caused by mutation in VRK1
exact
pontocerebellar hypoplasia, type 1A
related