Mutations in the OFD1 gene with different degrees of severity may cause oro-facio-digital-syndrome 1 (OFD1 syndrome, MIM 311200) (Macca and Franco 2009), Joubert syndrome (JBS10), retinitis pigmentosa (RP23, MIM 300424) (Webb et al., 2012) and primary ciliary dyskinesia (PCD, MIM 244400) (Coene et al., 2009; Bukowy-Bieryllo et al., 2019). The gene discussed is OFD1; the disease is Joubert syndrome.