pontocerebellar hypoplasia type 9
Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene.
MONDO:0020135
pontocerebellar hypoplasia
is_a
AMPD2 non-syndromic pontocerebellar hypoplasia
exact
PCH9
exact
non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2
exact
pontocerebellar hypoplasia, type 9
related
SPBC106.04