Cholestasis with Gallstone, Ataxia, and Visual Disturbances 454g61e ; 454g61e ; 454g61e ; 454g61e ; 454g61e ; 454g61e ; 454g61e ; 454g61e ; 454g61e ; 454g61e ; 454g61e ; 454g61e ; 454g61e ; 454g61e ; 454g61e ; 239
General: Autosomal recessive; not clear if distinct from Byler disease or another form of intrahepatic cholestasis; retinal neurologic features may be secondary to nutritional abnormalities.
Ocular: Retinal lesions; optic atrophy; ptosis.
Clinical: Congenital cholestasis; gallstone; cerebellar ataxia; jaundice; hepatitis; pruritus.
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/.
Tagawa Y, Konno T. Familial cholestasis with gallstone, ataxia and visual disturbance. Tohoku J Exp Med 1982; 137: 137-l44.
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