/Joubert syndrome with oculorenal defect

Joubert syndrome with oculorenal defect

Rare Disease

MONDO:0009480

Also Known As

Arima syndromeCORSCerebellooculorenal syndromeDekaban-Arima syndromeJS type BJS-ORJoubert syndrome with Senior-Loken syndromeJoubert syndrome with oculorenal defectDekaban Arima syndromeJoubert syndrome 5Joubert syndrome with bilateral chorioretinal colobomaJoubert syndrome with oculorenal anomaliescerebello-oculo-renal syndromecerebro-oculo-hepato-renal syndromecerebrooculohepatorenal syndromechorioretinal coloboma with cerebellar vermis aplasiacoloboma, chorioretinal, with cerebellar vermis aplasia

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.