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Sjögren-Larsson syndrome

Disease definition

Sjögren-Larsson syndrome (SLS) is a neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.

ORPHA:816

  • Synonym(s):
    • Fatty acid alcohol oxidoreductase deficiency
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.1
  • OMIM: 270200
  • UMLS: C0037231
  • MeSH: D016111
  • GARD: 7654
  • MedDRA: 10048676

Detailed information

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