/fragile X syndrome

fragile X syndrome

Rare Disease

MONDO:0010383

Also Known As

FRAXA syndromeFXSFraX syndromeFragile X syndrome, X-linked dominantMartin-Bell syndromefragile X intellectual disability syndromefragile X mental retardation syndromefragile X syndromemarker X syndromeX-linked intellectual disability and macroorchidismX-linked mental retardation and macroorchidismfra(X) syndromefragile 10 intellectual disability syndromefragile 10 mental retardation syndromefragile 10 premature ovarian failurefragile 10 syndromeintellectual disability, X-linked, associated with Marxq28marker 10 syndromemental retardation, X-linked, associated with Marxq28primary ovarian insufficiency, fragile X-associated

Definition

A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities.