Since the first report that de novo mutations in CHD7 (chromodomain helicase DNA binding protein 7) might be the cause of CHARGE syndrome (Vissers et al., 2004), several groups have sought to identify genotype-phenotype correlations and to determine how various phenotypic features of CHARGE are contributed to by CHD7 mutations (Aramaki et al., 2006a; Sanlaville et al., 2006; Zentner et al., 2010). Here, CHD7 is linked to CHARGE syndrome.