pontocerebellar hypoplasia type 1B
Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene.
MONDO:0016396
pontocerebellar hypoplasia type 1
is_a
EXOSC3 non-syndromic pontocerebellar hypoplasia
exact
PCH1B
related
non-syndromic pontocerebellar hypoplasia caused by mutation in EXOSC3
exact
pontocerebellar hypoplasia type 1B
exact
pontocerebellar hypoplasia, type 1B
related
SPAC22A12.12c