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Joubert syndrome with ocular defect

Disease definition

Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy.

ORPHA:220493

  • Synonym(s):
    • JS-O
    • Joubert syndrome with retinopathy
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: H35.5  Q04.3
  • OMIM: 608629  614424  614464  614970  617121
  • UMLS: -
  • MeSH: -
  • GARD: 10168
  • MedDRA: -

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