Fragile X Syndrome D005600

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 1 Indicated Drugs (4)

Other Experimental Indicated Drugs (1)


Organization Involved with Phase 4 Indications (3)

Organization Involved with Phase 1 Indications (2)

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UMLS Data


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