Cerebrotendinous xanthomatosis.
D002386:Cataract / Q000150:complications; D002524:Cerebellar Ataxia / Q000150:complications*; D002784:Cholesterol / Q000097:blood; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008875:Middle Aged; D012021:Reflex, Abnormal; D013710:Tendons; D014973:Xanthomatosis / Q000150:complications* / Q000235:genetics
D002784:Cholesterol