Next Generation Sequencing Competence Network

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)

Descriptor ID	D005600
MeSH Number(s)	C10.597.606.643.455.500 C16.131.260.830.300 C16.320.180.830.300 C16.320.322.500.500 C16.320.400.525.500
Concept/Terms	Fragile X Syndrome Fragile X Syndrome Fragile X Syndromes Syndrome, Fragile X Syndromes, Fragile X Fragile X Mental Retardation Syndrome X-Linked Mental Retardation and Macroorchidism X Linked Mental Retardation and Macroorchidism Martin-Bell Syndrome Martin Bell Syndrome Syndrome, Martin-Bell Mental Retardation, X-Linked, Associated With Marxq28 Fra(X) Syndrome Marker X Syndrome Marker X Syndromes Syndrome, Marker X Syndromes, Marker X FRAXE Syndrome FRAXE Syndrome FRAXE Syndromes Syndrome, FRAXE Syndromes, FRAXE Mental Retardation, X-Linked, Associated With Fragile Site Fraxe Fragile X-F Mental Retardation Syndrome Mar (X) Syndrome FRAXA Syndrome FRAXA Syndrome FRAXA Syndromes Syndrome, FRAXA Syndromes, FRAXA

Below are MeSH descriptors whose meaning is more general than "Fragile X Syndrome".

Below are MeSH descriptors whose meaning is related to "Fragile X Syndrome".

Below are MeSH descriptors whose meaning is more specific than "Fragile X Syndrome".