Even though kidney disease occurs in up to one third of patients with Joubert syndrome, most commonly in those with variations in CEP120, CEP290, TMEM67, and AHI1. Like other syndromic ciliopathies, the kidney disease can be very variable, going to mild to severe, but since the patient is a carrier, it is unlikely that these gene is the cause. The gene discussed is CEP290; the disease is ciliopathy.