While a few patients with developmental delay have been identified with large deletions in the ADAMTS6 locus, ARID1B is a known regulator of neural development and has previously been associated with intellectual disability (Firth et al., 2009; Halgren et al., 2012; Hoyer et al., 2012; Santen et al., 2012; Tsurusaki et al., 2012). The gene discussed is ADAMTS6; the disease is Global developmental delay.