About The Medical Condition Martin-Bell Syndrome
Find the definition of the medical term Martin-Bell Syndrome. Martin-Bell Syndrome defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Martin-Bell Syndrome
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What's The Definition Of The Medical Condition Martin-Bell 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. MENTAL RETARDATION 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)
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