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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Chromosome Disorders > Sex Chromosome Disorders > Fragile X Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Chromosome Disorders > Sex Chromosome Disorders > Fragile X Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Genetic Diseases, X-Linked > Mental Retardation, X-Linked > Fragile X Syndrome
... > Nervous System Diseases > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Mental Retardation, X-Linked > Fragile X Syndrome
... > Pathological Conditions, Signs and Symptoms > Signs and Symptoms > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Mental Retardation, X-Linked > Fragile X Syndrome
Behavior and Behavior Mechanisms > Neurobehavioral Manifestations > Intellectual Disability > Mental Retardation, X-Linked > Fragile X Syndrome
Mental Disorders > Neurodevelopmental Disorders > Intellectual Disability > Mental Retardation, X-Linked > Fragile X Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Mental Retardation, X-Linked > Fragile X Syndrome
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Mental Retardation, X-Linked > Fragile X Syndrome

Terme préférentiel

Fragile X Syndrome  

Type

  • mesh:Descriptor

Définition

  • 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)

Concept générique

Concepts associés

Synonyme(s)

  • Fragile X Mental Retardation Syndrome
  • Fra(X) Syndrome
  • Marker X Syndrome
  • Martin-Bell Syndrome
  • Mental Retardation, X-Linked, Associated With Marxq28
  • X-Linked Mental Retardation and Macroorchidism

Qualificatif(s) autorisé(s)

Traductions

  • Syndrome du chromosome X fragile

    français

  • Syndrome de l'X fragile
  • Syndrome de Martin-Bell
  • Syndrome de retard mental du X fragile
  • Syndrome du chromosome X-fragile

URI

http://data.loterre.fr/ark:/67375/JVR-KZK3R3W2-V

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RDF/XML TURTLE JSON-LD Date de création 22/04/1982, dernière modification le 30/06/2018