About The Medical Condition FRAXE Syndromes
Find the definition of the medical term FRAXE Syndromes. FRAXE Syndromes defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
FRAXE Syndromes
FRAXE Syndromes Medical Condition |
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What's The Definition Of The Medical Condition FRAXE Syndromes?
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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