Absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy: an autosomal recessive oculo-renal-cerebellar syndrome

Am J Med Genet. 1982 Apr;11(4):383-95. doi: 10.1002/ajmg.1320110403.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adolescent
  • Athetosis / genetics
  • Cerebellum / abnormalities*
  • Child
  • Chorea / genetics
  • Female
  • Genes, Recessive
  • Humans
  • Intellectual Disability / genetics*
  • Kidney Diseases / genetics*
  • Kidney Glomerulus / pathology
  • Male
  • Retinal Degeneration / genetics*
  • Retinal Vessels / pathology