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Severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency

ORPHA:438178

Classification level: Disorder
  • Synonym(s):
    • Severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency
    • Severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: E71.3
  • OMIM: 616154
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

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