Perturbation of the expression of these genes might cause disruption of ciliogenesis and result in skeletal ciliopathies (Short rib‐polydactyly syndrome (SRPS), INTU‐related (MIM# 617925), Congenital heart defects, hamartomas of tongue, and polysyndactyly, WDPCP-related (MIM# 217085), Joubert syndrome 17, CPLANE1-related (MIM# 614615) and Orofaciodigital syndrome VI, CPLANE1-related (MIM# 277170). The gene discussed is CPLANE1; the disease is orofaciodigital syndrome type 6.