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Fragile X syndrome

Disease definition

Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.

ORPHA:908

  • Synonym(s):
    • FRAXA syndrome
    • FXS
    • FraX syndrome
    • Martin-Bell syndrome
  • Prevalence: 1-5 / 10 000
  • Inheritance: X-linked dominant 
  • Age of onset: Neonatal, Infancy, Childhood
  • ICD-10: Q99.2
  • OMIM: 300624
  • UMLS: C0016667  C0751156
  • MeSH: D005600
  • GARD: 6464
  • MedDRA: 10017324

Detailed information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.