| {"0": "Mental deterioration", "1": "Hepatic failure", "2": "Dementia", "3": "Sensorimotor neuropathy", "4": "Cognitive impairment", "5": "Abnormality of hepatobiliary system physiology", "6": "Progressive neurologic deterioration", "7": "Abnormal muscle fiber morphology", "8": "Abnormality of temperature regulation", "9": "Impaired proprioception", "10": "Juvenile onset", "11": "Abnormal tissue metabolite concentration", "12": "Myoclonus", "13": "Visual loss", "14": "Respiratory distress", "15": "Splenomegaly", "16": "Abnormal circulating lipid concentration", "17": "Biliary tract abnormality", "18": "Abnormal biliary tract morphology", "19": "Abnormality of the spleen", "20": "Delusions", "21": "Vascular skin abnormality", "22": "Abnormality of head blood vessel", "23": "Bulbar signs", "24": "Cherry red spot of the macula", "25": "Action tremor", "26": "Bruising susceptibility", "27": "Schizophrenia", "28": "Progressive psychomotor deterioration", "29": "Central scotoma", "30": "Corneal opacity", "31": "Abnormal retinal artery morphology", "32": "Abnormality of the mitochondrion", "33": "Generalized myoclonic seizure", "34": "Postural tremor", "35": "Clumsiness", "36": "Scotoma", "37": "Abnormality of glycolipid metabolism", "38": "Abnormal retinal vascular morphology", "39": "Rigidity", "40": "Limb ataxia", "41": "Myoclonic seizure", "42": "Abnormality of fontanelles", "43": "Polyneuropathy", "44": "Optic disc pallor", "45": "Abnormal circulating cholesterol concentration", "46": "Abnormality of retinal pigmentation", "47": "Abnormal csf protein level", "48": "Increased bone mineral density", "49": "Peripheral demyelination"} |