In humans, copy number variations and exonic point mutations in the Kirrel3 gene are associated with intellectual disability, autism, and Jacobsen's syndrome, a rare developmental disorder that often includes intellectual disabilities (Bhalla et al., 2008; Guerin et al., 2012; Michaelson et al., 2012; Neale et al., 2012). The gene discussed is KIRREL3; the disease is Intellectual disability.