Syndromic X-linked intellectual disability Najm type
Syndromic X-linked intellectual disability Najm type
Definition
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.
Also known as intellectual disability and microcephaly with pontine and cerebellar hypoplasia, mental retardation and microcephaly with PONTINE and cerebellar hypoplasia, mental retardation, X-linked, syndromic, Najm type, MICPCH, MICPCH syndrome, syndromic X-linked intellectual disability Najm type, X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome — per MONDO