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Joubert syndrome with oculorenal defect

Disease definition

Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease.

ORPHA:2318

  • Synonym(s):
    • Arima syndrome
    • CORS
    • Cerebellooculorenal syndrome
    • Dekaban-Arima syndrome
    • JS type B
    • JS-OR
    • Joubert syndrome with Senior-Loken syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q04.3
  • OMIM: 243910  608091  610188  612285  614424  614465  614844
  • UMLS: C1855675
  • MeSH: -
  • GARD: 9455
  • MedDRA: -

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