" /> Joubert syndrome with oculorenal defect - CISMeF





Preferred Label : Joubert syndrome with oculorenal defect;

ICD-11 definition : Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome related disorders (JSRD) characterized by the neurological features of JS associated with both renal (nephronophthisis, usually juvenile) and ocular disease (manifesting with either Leber congenital amaurosis, or progressive retinal dystrophy).;

ICD-11 synonym : CORS syndrome; Cerebello-oculo-renal syndrome; Dekaban-Arima syndrome; Arima syndrome; Joubert syndrome with Senior-Loken syndrome; CORS - [Cerebello-oculo-renal syndrome] syndrome;

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Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome related disorders (JSRD) characterized by the neurological features of JS associated with both renal (nephronophthisis, usually juvenile) and ocular disease (manifesting with either Leber congenital amaurosis, or progressive retinal dystrophy).

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25/05/2025


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