Inborn errors of metabolism.
D000012:Abetalipoproteinemia / Q000175:diagnosis; D003937:Diagnosis, Differential; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics; D005132:Eye Manifestations; D006017:Glycolipids / Q000378:metabolism; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis; D008064:Lipidoses / Q000175:diagnosis; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D009542:Niemann-Pick Diseases / Q000175:diagnosis; D009759:Nystagmus, Pathologic / Q000150:complications; D009885:Ophthalmology; D012035:Refsum Disease / Q000175:diagnosis; D012168:Retinal Pigments
D006017:Glycolipids; D012168:Retinal Pigments