pontocerebellar hypoplasia, type 1C
Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene.
MONDO:0016396
pontocerebellar hypoplasia type 1
is_a
EXOSC8 pontocerebellar hypoplasia type 1
exact
PCH1C
related
pontocerebellar hypoplasia type 1 caused by mutation in EXOSC8
exact
pontocerebellar hypoplasia, type 1C
exact
SPBC17D1.03c