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Severe oculo-renal-cerebellar syndrome

Disease definition

A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982.


Classification level: Disorder
  • Synonym(s):
    • Hunter-Jurenka-Thompson syndrome
    • ORC syndrome
    • Oculorenocerebellar syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy
  • ICD-10: Q04.8
  • OMIM: 257970
  • UMLS: C1850331
  • MeSH: -
  • GARD: 4050
  • MedDRA: -
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