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PEHO syndrome

Disease definition

PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.

ORPHA:2836

  • Synonym(s):
    • Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy
    • Progressive encephalopathy-optic atrophy syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G31.8
  • OMIM: 260565
  • UMLS: C0796122  C1850055
  • MeSH: C536317
  • GARD: 4264
  • MedDRA: -

Additional information

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