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Floating-Harbor syndrome

Disease definition

Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

ORPHA:2044

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 136140
  • UMLS: C0729582
  • MeSH: C537062
  • GARD: 3221  6455
  • MedDRA: -

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