More specifically, in humans, SHANK2 (also known as ProSAP1) has been implicated in ASD, intellectual disability, developmental delay and schizophrenia (Pinto et al., 2010; Wischmeijer et al., 2011; Berkel et al., 2012; Leblond et al., 2012, 2014; Prasad et al., 2012; Rauch et al., 2012; Sanders et al., 2012; Chilian et al., 2013; Schluth-Bolard et al., 2013; Costas, 2015; Peykov et al., 2015a,b; Homann et al., 2016). The gene discussed is SHANK2; the disease is Global developmental delay.