Fragile X syndrome
Fragile X syndrome
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.
Also known as fragile X intellectual disability syndrome, fragile X syndrome, Fragile X syndrome, X-linked dominant, FraX syndrome, FRAXA syndrome, FXS, marker X syndrome, Martin-Bell syndrome — per MONDO