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Aicardi-Goutières syndrome

Disease definition

Aicardi-Goutières syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.

ORPHA:51

  • Synonym(s):
    • Encephalopathy with basal ganglia calcification
    • Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G31.8
  • OMIM: 114100  225750  610181  610329  610333  612952  615010  615846
  • UMLS: C0393591
  • MeSH: C535607
  • GARD: 575
  • MedDRA: -

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