| {"0": "Dementia", "1": "Hepatic failure", "2": "Juvenile onset", "3": "Mental deterioration", "4": "Bulbar signs", "5": "Sensorimotor neuropathy", "6": "Abnormal activity of mitochondrial respiratory chain", "7": "Clumsiness", "8": "Abnormal circulating lipid concentration", "9": "Action tremor", "10": "Cognitive impairment", "11": "Abnormal tissue metabolite concentration", "12": "Corneal opacity", "13": "Abnormal csf protein level", "14": "Peripheral demyelination", "15": "Progressive neurologic deterioration", "16": "Personality changes", "17": "Respiratory failure", "18": "Muscle abnormality related to mitochondrial dysfunction", "19": "Visual loss", "20": "Myoclonus", "21": "Abnormality of the mitochondrion", "22": "Abnormality of hepatobiliary system physiology", "23": "Hyperintensity of cerebral white matter on mri", "24": "Decreased activity of mitochondrial complex i", "25": "Loss of speech", "26": "Toe walking", "27": "Paraparesis", "28": "Abnormal circulating cholesterol concentration", "29": "Incoordination", "30": "Delusions", "31": "Optic disc pallor", "32": "Spastic paraparesis", "33": "Cherry red spot of the macula", "34": "Skin nodule", "35": "Supranuclear gaze palsy", "36": "Postural tremor", "37": "Abnormal peripheral nervous system physiology", "38": "Ectrodactyly", "39": "Hypocholesterolemia", "40": "Abnormality of corneal stroma", "41": "Myoclonic seizure", "42": "Progressive psychomotor deterioration", "43": "Amyotrophic lateral sclerosis", "44": "Abnormality of lipoprotein cholesterol concentration", "45": "Proximal muscle weakness", "46": "Abnormal retinal artery morphology", "47": "Abnormal ldl cholesterol concentration", "48": "Horizontal nystagmus", "49": "Demyelinating peripheral neuropathy"} |