pontocerebellar hypoplasia type 2D
Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the SEPSECS gene.
MONDO:0016759
pontocerebellar hypoplasia type 2
is_a
PCH2D
related
SEPSECS non-syndromic pontocerebellar hypoplasia
exact
non-syndromic pontocerebellar hypoplasia caused by mutation in SEPSECS
exact
pontocerebellar hypoplasia type 2D
exact
pontocerebellar hypoplasia, type 2D
related