pontocerebellar hypoplasia type 2C
Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene.
MONDO:0016759
pontocerebellar hypoplasia type 2
is_a
PCH2C
related
TSEN34 non-syndromic pontocerebellar hypoplasia
exact
non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN34
exact
pontocerebellar hypoplasia, type 2C
related
SPBC19C7.07c