Arima Syndrome (BJ)

Alias:

Dekaban-Arima Syndrome

Joubert Syndrome with Senior-Loken Syndrome

Joubert Syndrome with Oculorenal Defect

Cerebellooculorenal Syndrome

Js Type B

Js-or

Cors

Coloboma, Chorioretinal, with Cerebellar Vermis Aplasia

Joubert Syndrome with Bilateral Chorioretinal Coloboma

Joubert Syndrome Bilateral Chorioretinal Coloboma

Cerebrooculohepatorenal Syndrome

Cor

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Arima Syndrome, also known as dekaban-arima syndrome, is related to joubert syndrome 2 and encephaloceles, and has symptoms including ataxia An important gene associated with Arima Syndrome is CEP290 (Centrosomal Protein 290), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Bardet-Biedl syndrome. The drug Metronidazole has been mentioned in the context of this disorder. Affiliated tissues include eye and brain, and related phenotypes are intellectual disability and ataxia

Related ID：

MALACARDS：ARM010

OMIM：243910