Fragile X Syndrome (FXS)

Fragile X Syndrome(来自ICD-11)

别称:

Martin-Bell Syndrome

Fraxa Syndrome

Fxs

Marker X Syndrome

X-Linked Mental Retardation and Macroorchidism

Fragile X Mental Retardation Syndrome

Frax Syndrome

Fraxe

Symptomatic Form of Fragile X Syndrome in Female Carriers

Mental Retardation, X-Linked, Associated with Marxq28

Fragile-X Syndrome

Fraxe Syndrome

Fra Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Fragile X Syndrome, also known as martin-bell syndrome, is related to fraxe intellectual disability and fragile x tremor/ataxia syndrome, and has symptoms including seizures and agitation. An important gene associated with Fragile X Syndrome is FMR1 (Fragile X Messenger Ribonucleoprotein 1), and among its related pathways/superpathways are Neuroscience and Translational Control. The drugs Lovastatin and Riluzole have been mentioned in the context of this disorder. Affiliated tissues include eye and brain, and related phenotypes are chronic otitis media and macroorchidism

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