Hereditary cerebellar ataxia associated with congenital cataracts. 4 cases of the Marinesco-Sjögren syndrome with some unusual features.
D000015:Abnormalities, Multiple; D000368:Aged; D001766:Blindness; D002386:Cataract / Q000151:congenital; D002524:Cerebellar Ataxia / Q000235:genetics*; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D008875:Middle Aged; D013577:Syndrome; D001750:Urinary Bladder, Neurogenic