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Encephalopathy due to sulfite oxidase deficiency

Disease definition

Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.

ORPHA:833

  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal, Antenatal
  • ICD-10: E72.1
  • OMIM: 252150  252160  272300  615501
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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