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Aicardi syndrome

Disease definition

Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females.

ORPHA:50

  • Synonym(s):
    • Corpus callosum agenesis of with chorioretinal abnormality
  • Prevalence: Unknown
  • Inheritance: X-linked dominant 
  • Age of onset: Neonatal
  • ICD-10: Q04.0
  • OMIM: 304050
  • UMLS: C0175713
  • MeSH: D058540
  • GARD: 5764
  • MedDRA: 10054935

Detailed information

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