pontocerebellar hypoplasia type 10
Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene.
MONDO:0020135
pontocerebellar hypoplasia
is_a
CLP1 non-syndromic pontocerebellar hypoplasia
exact
CLP1-related pontocerebellar hypoplasia
exact
PCH10
exact
non-syndromic pontocerebellar hypoplasia caused by mutation in CLP1
exact
pontocerebellar hypoplasia, type 10
related
SPAC22H10.05c