Catalog

Joubert syndrome with oculorenal defect

No MMS code

Link to WHO Definition

Joubert syndrome with oculorenal defect – http://id.who.int/icd/entity/397835469

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).