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Disease Fragile X Syndrome

Name Fragile X Syndrome
Synonyms Fragile X-F Mental Retardation Syndrome | Fragile X Mental Retardation Syndrome | FRAGILE X PREMATURE OVARIAN FAILURE, INCLUDED | FRAGILE X SYNDROME | Fragile X Syndromes | FRAXA Syndrome | FRAXA Syndromes | FRAXE MENTAL RETARDATION SYNDROME | FRAXE Syndrome | FRAXE Syndromes | Fra(X) Syndrome | Marker X Syndrome | Marker X Syndromes | Martin Bell Syndrome | Martin-Bell Syndrome | MARTIN-BELL SYNDROME PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED, INCLUDED | Mar (X) Syndrome | Mental Retardation, X-Linked, Associated With Fragile Site Fraxe | Mental Retardation, X-Linked, Associated With Marxq28 | Syndrome, Fragile X | Syndrome, FRAXA | Syndrome, FRAXE | Syndrome, Marker X | Syndrome, Martin-Bell | Syndromes, Fragile X | Syndromes, FRAXA | Syndromes, FRAXE | Syndromes, Marker X | X Linked Mental Retardation and Macroorchidism | X-Linked Mental Retardation and Macroorchidism
Definition 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)
Categories Congenital abnormality | Genetic disease (inborn) | Nervous system disease
MeSH® ID D005600
OMIM® IDs 300624 | 309548
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Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurologic Manifestations Has associated chemicals Has associated genes Has associated exposure references Neurobehavioral Manifestations Has associated chemicals Has associated genes Has associated exposure references Intellectual Disability Has associated chemicals Has associated genes Has associated exposure references Mental Retardation, X-Linked Has associated chemicals Has associated genes Fragile X Syndrome Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes Sex Chromosome Disorders Has associated chemicals Has associated genes Fragile X Syndrome Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes Sex Chromosome Disorders Has associated chemicals Has associated genes Fragile X Syndrome Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, X-Linked Has associated chemicals Has associated genes Mental Retardation, X-Linked Has associated chemicals Has associated genes Fragile X Syndrome Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Mental Retardation, X-Linked Has associated chemicals Has associated genes Fragile X Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

Fragile X Syndrome Has associated chemicals Has associated genes
  Fragile X Tremor Ataxia Syndrome Has associated chemicals Has associated genes
  Primary Ovarian Insufficiency, Fragile X-Associated Has associated chemicals Has associated genes
  Saul Wilkes Stevenson syndrome