Variations in KIAA0586 could cause some different ciliopathies, such as one subtype of Joubert syndrome (JBTS23, OMIM #616,490), preaxial polydactyly and short rib thoracic dysplasia 14 (SRTD14; OMIM #616,546) [7–10]. Here, KIAA0586 is linked to ciliopathy.