pontocerebellar hypoplasia, type 2F
Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene.
MONDO:0016759
pontocerebellar hypoplasia type 2
is_a
PCH2F
exact
TSEN15 non-syndromic pontocerebellar hypoplasia
exact
non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN15
exact
pontocerebellar hypoplasia, type 2F
exact
pontocerebellar hypoplasia, type 2F; PCH2F
exact
SPAC959.10