pontocerebellar hypoplasia type 2B
Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene.
MONDO:0016759
pontocerebellar hypoplasia type 2
is_a
PCH2B
related
TSEN2 non-syndromic pontocerebellar hypoplasia
exact
non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN2
exact
pontocerebellar hypoplasia type 2B
exact
pontocerebellar hypoplasia, type 2B
related
SPAPB17E12.07c