Deleterious variants in KIAA0586 have been associated to Joubert syndrome (OMIM 213300), a ciliopathy characterized by the distinctive “molar tooth” sign at brain MRI, global developmental delay and a constellation of variable neurological signs.[2] This gene has also been associated with more severe/lethal ciliopathies including hydrolethalus syndrome (OMIM 236680) and short-rib polydactyly (OMIM 616546).[3]. The gene discussed is KIAA0586; the disease is ciliopathy.