The variants in this gene were also reported in developmental conditions with an X-linked recessive pattern of inheritance, included in the OMIM database: Joubert syndrome 10 (JBS10, MIM #300804), Simpson-Golabi-Behmel syndrome, type 2 (SGBS2-MIM #300209), and Retinitis pigmentosa 23 (RP23, MIM #300424, provisional association). The gene discussed is OFD1; the disease is Joubert syndrome with orofaciodigital defect.