Fragile X Syndrome

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Is a:
  • Congenital Abnormality
Definition:
A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci fraxa or fraxe) and phenotypically by cognitive impairment, hyperactivity, seizures, language delay, and enlargement of the ears, head, and testes. mental retardation occurs in nearly all males and roughly 50% of females with the full mutation of fraxa. (From Menkes, Textbook of Child Neurology, 5th ed, p226)
Synonyms:
  • Fragile X Syndromes
  • FRAXA Syndrome
  • FRAXA Syndromes
  • FRAXE Syndrome
  • FRAXE Syndromes
  • Martin Bell Syndrome
  • Martin-Bell Syndrome
  • Syndrome, Fragile X
  • Syndrome, FRAXA
  • Syndrome, FRAXE
  • Syndrome, Martin-Bell
  • Syndromes, Fragile X
  • Syndromes, FRAXA
  • Syndromes, FRAXE
Broader Topics:
Narrower Topics:
  • None
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