Joubert syndrome with oculorenal defect
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.
MONDO:0002254
syndromic disease
is_a
MONDO:0015369
Joubert syndrome and related disorders
is_a
MONDO:0020022
central nervous system malformation
is_a
MONDO:0024458
disorder of visual system
is_a
Arima syndrome
exact
CORS
exact
Cerebellooculorenal syndrome
exact
Dekaban Arima syndrome
related
Dekaban-Arima syndrome
exact
JS type B
exact
JS-OR
exact
Joubert syndrome 5
related
Joubert syndrome with Senior-Loken syndrome
exact
Joubert syndrome with bilateral chorioretinal coloboma
related
Joubert syndrome with oculorenal anomalies
related
Joubert syndrome with oculorenal defect
exact
cerebello-oculo-renal syndrome
related
cerebro-oculo-hepato-renal syndrome
related
chorioretinal coloboma with cerebellar vermis aplasia
related