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)

Also Known As:

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

Nervous System Diseases: 14737
- Neurologic Manifestations: 7223
  - Neurobehavioral Manifestations: 1632
    - Intellectual Disability: 8222
      - X-Linked Mental Retardation: 273
        Fragile X Syndrome: 1696
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Chromosome Disorders: 140
    - Sex Chromosome Disorders: 5
      - Fragile X Syndrome: 1696
- Inborn Genetic Diseases: 12342
  - Chromosome Disorders: 140
    - Sex Chromosome Disorders: 5
      - Fragile X Syndrome: 1696
  - Nervous System Heredodegenerative Disorders: 62
    - X-Linked Mental Retardation: 273
      - Fragile X Syndrome: 1696
  - X-Linked Genetic Diseases: 42
    - X-Linked Mental Retardation: 273
      - Fragile X Syndrome: 1696

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