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. The disease is fragile X syndrome (MONDO_0010383). Also known as: FRAXA syndrome, FXS, FraX syndrome, Fragile X syndrome, X-linked dominant, Martin-Bell syndrome, fragile X intellectual disability syndrome, fragile X mental retardation syndrome, marker X syndrome.