A family with late infantile amaurotic idiocy (Jansky-Bielschowsky's disease): report of three cases.
D002675:Child, Preschool; D004200:Diseases in Twins; D004569:Electroencephalography; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008064:Lipidoses / Q000150:complications / Q000235:genetics; D008297:Male; D009896:Optic Atrophy / Q000150:complications; D010375:Pedigree; D011011:Pneumoencephalography