Since the initial identification of the AUTS2 locus, there have been over 30 additional individuals with cognitive disorders ranging from ASD to epilepsy, attention deficit disorder, intellectual disability and developmental delay harboring disruptions in both the coding and noncoding regions of the AUTS2 locus (Kalscheuer et al., 2007; Bakkaloglu et al., 2008; Glessner et al., 2009a; Elia et al., 2010; Pinto et al., 2010; Ben-David et al., 2011). Here, AUTS2 is linked to Intellectual disability.