Gene:
fragile X mental retardation 1
Gene ID:
193156
Symbol:
FMR1
Species:
1000
Description:
X-linked mental retardation associated with marXq28, or fragile X syndrome, is characterized by moderate to severe mental retardation, macroorchidism, large ears, prominent jaw, and high-pitched jocular speech. Expression is variable, with mental retardation being the most common feature. This phenotype is associated with mutations in the FMR1 gene. McCabe et al. (1999) [PubMed 10398250] summarized the proceedings of a workshop on the fragile X syndrome held in December 1998.[supplied by OMIM]