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Fragile X Syndrome

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. INTELLECTUAL DISABILITY 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)

Year introduced: 1991(1983)

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Tree Number(s): C10.597.606.360.455.500, C16.131.260.830.300, C16.320.180.830.300, C16.320.322.500.500, C16.320.400.525.500

MeSH Unique ID: D005600

Entry Terms:

  • Fragile X Syndromes
  • Syndrome, Fragile X
  • Syndromes, Fragile X
  • Marker X Syndrome
  • Marker X Syndromes
  • Syndrome, Marker X
  • Syndromes, Marker X
  • Mental Retardation, X-Linked, Associated With Marxq28
  • X-Linked Mental Retardation and Macroorchidism
  • X Linked Mental Retardation and Macroorchidism
  • Fragile X Mental Retardation Syndrome
  • Martin-Bell Syndrome
  • Martin Bell Syndrome
  • Syndrome, Martin-Bell
  • Fra(X) Syndrome
  • FRAXE Syndrome
  • FRAXE Syndromes
  • Syndrome, FRAXE
  • Syndromes, FRAXE
  • Mental Retardation, X-Linked, Associated With Fragile Site Fraxe
  • Fragile X-F Mental Retardation Syndrome
  • Mar (X) Syndrome
  • FRAXA Syndrome
  • FRAXA Syndromes
  • Syndrome, FRAXA
  • Syndromes, FRAXA

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