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Joubert syndrome with renal defect

Disease definition

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

ORPHA:220497

Classification level: Disorder
  • Synonym(s):
    • JS-R
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q04.3  Q61.5
  • OMIM: 609583  611560  614424
  • UMLS: -
  • MeSH: -
  • GARD: 10169
  • MedDRA: -

Detailed information

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