syndromic X-linked intellectual disability Najm type
A rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.
MONDO:0020022
central nervous system malformation
is_a
MONDO:1060192
CASK-related intellectual disability
is_a
MICPCH
exact
MICPCH syndrome
exact
X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia
related
X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
exact
intellectual disability and microcephaly with pontine and cerebellar hypoplasia
exact
mental retardation and microcephaly with PONTINE and cerebellar hypoplasia
exact
mental retardation and microcephaly with pontine and cerebellar hypoplasia
exact
mental retardation, X-linked, syndromic, Najm type
exact
microcephaly with pontine and cerebellar hypoplasia
related
syndromic X-linked intellectual disability Najm type
exact