X-linked intellectual disability(English)

• intellectual disability (formerly called mental retardation) is a developmental brain disorder commonly defined by an IQ below 70 and limitations in both intellectual functioning and adaptive behavior. ID can originate from environmental causes and/or genetic anomalies, and its incidence in children is estimated to be of 1%–2%. Mutations causing monogenic XLID have been reported in over 100 genes, most of which are commonly included in XLID diagnostic gene panels. Nonetheless, the boundary between true mutations and rare non-disease-causing variants often remains elusive. One of the first genes identified as involved in XLID is FMR1 (MIM 309550), a target of the unstable expansion mutation responsible for fragile X syndrome (MIM 300624); previously known as XLMR
• ID, IQ
• Congenital disorders, Mental health, Disability
• https://doi.org…jhg.2013.06.013