Joubert syndrome with oculorenal defect (Q61802): Difference between revisions

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Latest revision as of 09:18, 14 August 2026

Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome related disorders (JSRD) characterised 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).

Language	Label	Description	Also known as
default for all languages	ID_397835469
English	Joubert syndrome with oculorenal defect	Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome related disorders (JSRD) characterised 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).