We examined the genes IFT57 (mutated in orofaciodigital syndrome (OFD, OMIM #311200)), BBS2 (Bardet-Biedl syndrome (BBS, OMIM #209900)), (TMEM231 (Meckel-Gruber syndrome (MKS, OMIM #249000)), TCTN2 (Joubert syndrome, (JBTS, OMIM #213300)) (Fig. 4c–e). The gene discussed is TCTN2; the disease is orofaciodigital syndrome I.