Patients with TMEM107 pathological variants were diagnosed with a stronger phenotype in case of MKS with bilateral anophthalmia (Shaheen et al, 2015), and milder phenotypes with OFD and JBT with oculomotor apraxia and retinopathy (Lambacher et al, 2016), and OFD with strabismus (Chinen et al, 2022). Here, TMEM107 is linked to orofaciodigital syndrome.