Sandhoff's disease (GM2gangliosidosis, type 2) in a Scottish family.
D001766:Blindness / Q000150:complications; D001923:Brain Chemistry; D001996:Bronchopneumonia / Q000150:complications; D002784:Cholesterol / Q000032:analysis; D004569:Electroencephalography; D005732:Gangliosides / Q000378:metabolism*; D006579:Heterozygote; D006595:Hexosamines / Q000032:analysis; D006596:Hexosaminidases / Q000378:metabolism; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008064:Lipidoses; D008297:Male; D008854:Microscopy, Electron; D009135:Muscular Diseases / Q000150:complications; D009438:Neuraminic Acids / Q000032:analysis; D009887:Ophthalmoscopy; D010743:Phospholipids / Q000032:analysis; D012606:Scotland
D005732:Gangliosides; D006595:Hexosamines; D009438:Neuraminic Acids; D010743:Phospholipids; D002784:Cholesterol; D006596:Hexosaminidases