Fragile X Syndrome
Synonyms
FRAXA Syndrome
FRAXA Syndromes
FRAXE Syndrome
FRAXE Syndromes
Fra(X) Syndrome
Fragile X Mental Retardation Syndrome
Fragile X Syndromes
Fragile X-F Mental Retardation Syndrome
Mar (X) Syndrome
Marker X Syndrome
Marker X Syndromes
Martin Bell Syndrome
Martin-Bell Syndrome
Mental Retardation, X-Linked, Associated With Fragile Site Fraxe
Mental Retardation, X-Linked, Associated With Marxq28
Syndrome, FRAXA
Syndrome, FRAXE
Syndrome, Fragile X
Syndrome, Marker X
Syndrome, Martin-Bell
Syndromes, FRAXA
Syndromes, FRAXE
Syndromes, Fragile X
Syndromes, Marker X
X Linked Mental Retardation and Macroorchidism
X-Linked Mental Retardation and Macroorchidism
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)
See Also