Juvenile amaurotic family idiocy with cherry-red spot and cataract.
D000293:Adolescent; D000328:Adult; D002386:Cataract / Q000150:complications* / Q000235:genetics; D006801:Humans; D008064:Lipidoses / Q000150:complications* / Q000235:genetics; D008297:Male; D012162:Retinal Degeneration / Q000150:complications* / Q000235:genetics