The TMEM107 locus has recently been found to be mutated in patients with Meckel–Gruber syndrome, Orofaciodigital syndrome, and Joubert syndrome (Iglesias et al, 2014; Shaheen et al, 2015; Lambacher et al, 2016; Shylo et al, 2016; Chinen et al, 2022). The gene discussed is TMEM107; the disease is orofaciodigital syndrome I.