/syndromic X-linked intellectual disability Najm type

syndromic X-linked intellectual disability Najm type

Rare Disease

MONDO:0010417

Also Known As

MICPCHX-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndromeintellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, X-linked dominantintellectual disability and microcephaly with pontine and cerebellar hypoplasiamental retardation and microcephaly with pontine and cerebellar hypoplasiasyndromic X-linked intellectual disability Najm typeMicpch syndromeX-linked intellectual disability - microcephaly - pontocerebellar hypoplasiaX-linked intellectual disability, Najm typeintellectual disability and microcephaly with PONTINE and cerebellar hypoplasiaintellectual disability, X-linked, syndromic, Najm typemental retardation and microcephaly with PONTINE and cerebellar hypoplasiamental retardation, X-linked, syndromic, Najm typemicrocephaly with pontine and cerebellar hypoplasia

Definition

Najm type X-linked intellectual deficit is 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.