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Alexander disease type I

Disease definition

An astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.

ORPHA:363717

Classification level: Subtype of disorder
  • Synonym(s):
    • AxD type I
  • Prevalence: Unknown
  • Inheritance: Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E75.2
  • OMIM: 203450
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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