Fragile X Syndrome


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)