In humans, mutation of CHD8 is associated with autism spectrum disorders (ASDs) (De Rubeis et al. 2014; McCarthy et al. 2014; Prontera et al. 2014; Sugathan et al. 2014; Cotney et al. 2015), and haploinsufficient mutations of CHD7 are strongly associated with CHARGE syndrome (Vissers et al. 2004; Lalani et al. 2006; Janssen et al. 2012; Martinez-Quintana et al. 2014) and Kallmann syndrome (Marcos et al. 2014), two severe multisystem disorders. This evidence concerns the gene CHD7 and CHARGE syndrome.