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Coffin-Lowry syndrome

Disease definition

Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.


Classification level: Disorder
  • Synonym(s):
    • CLS
  • Prevalence: 1-9 / 100 000
  • Inheritance: X-linked dominant 
  • Age of onset: Neonatal
  • ICD-10: Q87.0
  • OMIM: 303600
  • UMLS: C0265252
  • MeSH: D038921
  • GARD: 6123
  • MedDRA: -

Detailed information

Article for general public


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