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Smith-Lemli-Opitz syndrome

Disease definition

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

ORPHA:818

  • Synonym(s):
    • 7-dehydrocholesterol reductase deficiency
    • RSH syndrome
    • SLOS
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.1
  • OMIM: 270400
  • UMLS: C0175694  C2713347
  • MeSH: D019082
  • GARD: 5683
  • MedDRA: -

Detailed information

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