Human CC2D2A mutations cause Meckel and Joubert syndromes, and TMEM231 mutations cause Meckel, Joubert, and Orofaciodigital syndromes (Noor et al., 2008; Roberson et al., 2015; Shaheen et al., 2013; Srour et al., 2012; Tallila et al., 2008). The gene discussed is CC2D2A; the disease is orofaciodigital syndrome.