Oculorenocerebellar Syndrome (ORC Syndrome) 323e49d 323e49d 323e49d 323e49d 323e49d
General: Autosomal recessive.
Ocular: Progressive tapetoretinal degeneration with loss of retinal vessels.
Clinical: Mental retardation; continuous jerky movements; spastic diplegia; glomerulopathy with most renal glomeruli completely sclerosed.
Hunter AG, et al. Absence of cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy: an autosomal recessive oculo-renal-cerebellar syndrome. Am J Med Genet 1982; 11: 383-395.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
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