Related MeSH Hierarchy (5)
Diseases [C] » Nervous System Diseases [C10] » Neurologic Manifestations » Neurobehavioral Manifestations » Intellectual Disability » Mental Retardation, X-Linked » Fragile X Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Chromosome Disorders » Sex Chromosome Disorders » Fragile X Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Chromosome Disorders » Sex Chromosome Disorders » Fragile X Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Genetic Diseases, X-Linked » Mental Retardation, X-Linked » Fragile X Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Heredodegenerative Disorders, Nervous System » Mental Retardation, X-Linked » Fragile X Syndrome
Description
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) MeSH
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Phase 4 Indicated Drugs (6)
Phase 3 Indicated Drugs (6)
Phase 1 Indicated Drugs (4)
Other Experimental Indicated Drugs (2)
Organization Involved with Phase 4 Indications (3)
Organization Involved with Phase 3 Indications (7)
Organization Involved with Phase 2 Indications (41)
National Institute of Mental Health (NIMH)
National Institute of Neurological Disorders and Stroke (NINDS)
National Institutes of Health (NIH)
Neuren Pharmaceuticals Limited
NYS Institute for Basic Research in Developmental Disabilities
Organization Involved with Phase 1 Indications (2)
Organization Involved with Other Experimental Indications (6)
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UMLS Data
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