Cholestanolosis (cerebrotendinous xanthomatosis). A follow-up study on the original family.
D000328:Adult; D000367:Age Factors; D001921:Brain / Q000473:pathology; D002386:Cataract / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000209:etiology; D002526:Cerebellar Diseases / Q000235:genetics* / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D002648:Child; D002776:Cholestanes / Q000097:blood / Q000378:metabolism*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D008052:Lipid Metabolism, Inborn Errors / Q000473:pathology; D013116:Spinal Cord / Q000473:pathology; D013118:Spinal Cord Diseases / Q000209:etiology; D014973:Xanthomatosis / Q000209:etiology / Q000235:genetics* / Q000473:pathology
D002776:Cholestanes