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X-linked intellectual disability, Najm type

Disease 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.

ORPHA:163937

  • Synonym(s):
    • MICPCH
    • X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q04.3
  • OMIM: 300749
  • UMLS: C2677903
  • MeSH: -
  • GARD: 12669
  • MedDRA: -

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