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Using whole exome sequencing, a homozygous missense variation (c.3264G&gt;C, p.W1088C) in a plausible disease causing gene, <jats:italic>GPR126<\/jats:italic>, was identified in two patients presenting with profound ID, severe speech impairment, microcephaly, seizures during infancy, and spasticity accompanied by cerebellar hypoplasia. The role of <jats:italic>GPR126<\/jats:italic> in radial sorting and myelination in Schwann cells suggests a mechanism of pathogenesis for ID. Involvement of <jats:italic>GPR126<\/jats:italic> in lethal congenital contracture syndrome 9 has been identified previously, but this is the first report of a plausible candidate gene, <jats:italic>GPR126<\/jats:italic>, in ID.<\/jats:p>","DOI":"10.1002\/ajmg.a.40531","type":"journal-article","created":{"date-parts":[[2018,12,14]],"date-time":"2018-12-14T10:41:13Z","timestamp":1544784073000},"page":"13-19","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["<i>GPR126<\/i>: A novel candidate gene implicated in autosomal recessive intellectual disability"],"prefix":"10.1002","volume":"179","author":[{"given":"Masoumeh","family":"Hosseini","sequence":"first","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Tehran 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