TMEM107 and orofaciodigital syndrome I: Patients who appear as homozygotes or compound heterozygotes for TMEM107 mutant allele have been diagnosed with Joubert (JS), Meckel–Gruber (MKS) or orofaciodigital syndrome (OFD) (Iglesias et al, 2014; Shaheen et al, 2015; Lambacher et al, 2016; Shylo et al, 2016; Chinen et al, 2022).