Joubert syndrome with oculorenal defect
Joubert syndrome with oculorenal defect
Definition
Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.
Also known as Arima syndrome, Cerebellooculorenal syndrome, CORS, Dekaban-Arima syndrome, Joubert syndrome with oculorenal defect, Joubert syndrome with Senior-Loken syndrome, JS type B, JS-OR — per MONDO