Pathogenic variants in KIAA0586 are often associated with a wide range of ciliopathies, such as Joubert syndrome (JS, OMIM #616490) and short-rib thoracic dysplasia syndrome (SRTD, OMIM #616546), and the hypothesis of this gene being involved with hydrolethalus syndrome (HSL, OMIM #614120) and orofaciodigital syndrome IV (OMIM #258860) has been raised in the literature [4,5,6,8,13]. The gene discussed is KIAA0586; the disease is hydrolethalus syndrome.