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)

DUI

D005600 MeSH Browser

CUI

M0008811

Previous indexing

Mental Retardation/genetics (1966-1982); Sex Chromosomes (1968-1982); X Chromosome (1978-1982)

History note

91(83); was see under SEX CHROMOSOME ABNORMALITIES 1983-90

Public note

91; was see under SEX CHROMOSOME ABNORMALITIES 1983-90