Several diagnostic hypotheses led to the non-conclusive exploration of GLI3 (Pallister-Hall), OFD1 (Orofaciodigital syndrome I) and the known BBS genes at that time (BBS1-BBS18) using Sanger and targeted exome sequencing (Muller et al., 2010; Redin et al., 2012). The gene discussed is BBIP1; the disease is orofaciodigital syndrome I.