Truncated variants in the OFD1 gene are associated with two X-linked recessive phenotypes: Joubert syndrome 10 (JS10), primary ciliary dyskinesia (PCD), and retinitis pigmentosa 23 (RP23) [6,7,8] JS10 is characterized by craniofacial abnormalities, oral abnormalities, retinal dysfunction, cystic disease, skeletal defects, brain malformations, the molar tooth sign, cognitive impairment, and situs inversus [7]. The gene discussed is OFD1; the disease is retinitis pigmentosa 23.