Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Chromosome Disorders
Sex Chromosome Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Chromosome Disorders
Sex Chromosome Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Mental Retardation, X-Linked
Nervous System Diseases
Neurodegenerative Diseases
Heredodegenerative Disorders, Nervous System
Mental Retardation, X-Linked
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Mental Retardation, X-Linked
...
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Mental Retardation, X-Linked
...
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Mental Retardation, X-Linked
Preferred term
Fragile X Syndrome
Type
-
Topical Descriptor
Broader concept
Entry terms
- Fragile X Mental Retardation Syndrome
- Fra(X) Syndrome
- Marker X Syndrome
- Marker X Syndromes
- Martin Bell Syndrome
- Martin-Bell Syndrome
- Mental Retardation, X-Linked, Associated With Marxq28
- Syndrome, Marker X
- Syndrome, Martin-Bell
- Syndromes, Marker X
- X Linked Mental Retardation and Macroorchidism
- X-Linked Mental Retardation and Macroorchidism
Scope note
- 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)
History note
- 91(83); was see under SEX CHROMOSOME ABNORMALITIES 1983-90
In other languages
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Finnish
-
fragiili X
-
fragiili X -syndrooma
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fragiili-X
-
fragile X
-
fragile X -oireyhtymä
-
fragile X -syndrooma
-
fragile-X
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frax
-
frax-oireyhtymä
-
frax-syndrooma
-
fraxi-oireyhtymä
-
fraxi-syndrooma
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Martin-Bell
-
Martin-Bellin oireyhtymä
-
Martin-Bellin syndrooma
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särö-X
-
särö-X-oireyhtymä
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särö-X-syndrooma
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Swedish
-
Fraxa-syndrom
URI
http://www.yso.fi/onto/mesh/D005600
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