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Seizures-intellectual disability due to hydroxylysinuria syndrome

Disease definition

A rare inborn error of metabolism characterized by infantile onset of global developmental delay, severe intellectual disability, seizures, and movement disorder (including tremor, hyperkinesia, and myoclonus), associated with excessive excretion of hydroxylysine in urine. There have been no further descriptions in the literature since 1970.

ORPHA:79156

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: E72.3
  • OMIM: 236900
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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