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Smith-Magenis syndrome

Disease definition

A rare, genetic, neurodevelopmental disorder characterized by cognitive impairment of variable severity, behavioral abnormalities, and sleep disturbance. Patients present with distinctive physical features and a wide range of malformations (e.g. cardiac, renal).

ORPHA:819

Classification level: Disorder
  • Synonym(s):
    • 17p11.2 microdeletion syndrome
  • Prevalence: 1-9 / 100 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • OMIM: 182290
  • UMLS: C0795864
  • MeSH: D058496
  • GARD: 8197
  • MedDRA: -

Detailed information

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