Among genes in deleted CNVs, two of the genes, SATB2 and MEIS2, which are deleted in eight and five OFC patients (Table 3; Supplementary Tables 2, 5, 6), respectively, have been reported as causative for CP and CLP in several human and animal studies (FitzPatrick et al. 2003; Beaty et al. 2006; Britanova et al. 2006; Dobreva et al. 2006; Erdogan et al. 2007; Leoyklang et al. 2007; Crowley et al. 2010; Johansson et al. 2014; Rainger et al. 2014; Louw et al. 2015). Here, SATB2 is linked to otofaciocervical syndrome 1.