| {"0": "Mental deterioration", "1": "Dementia", "2": "Variable expressivity", "3": "Hepatic failure", "4": "Cognitive impairment", "5": "Abnormal circulating lipid concentration", "6": "Phenotypic variability", "7": "Delusions", "8": "Optic disc pallor", "9": "Abnormal circulating cholesterol concentration", "10": "Toe walking", "11": "Abnormal biliary tract morphology", "12": "Avascular necrosis", "13": "Biliary tract abnormality", "14": "Hallucinations", "15": "Dysostosis multiplex", "16": "Bulbar signs", "17": "Cherry red spot of the macula", "18": "Clumsiness", "19": "Ragged red muscle fibers", "20": "Abnormal vascular physiology", "21": "Abnormal muscle fiber morphology", "22": "Splenomegaly", "23": "Limb ataxia", "24": "Polyneuropathy", "25": "Sensorimotor neuropathy", "26": "Corneal opacity", "27": "Myoclonus", "28": "Abnormality of hepatobiliary system physiology", "29": "Hepatomegaly", "30": "Ventricular hypertrophy", "31": "Abnormal tissue metabolite concentration", "32": "Decreased activity of mitochondrial complex i", "33": "Abnormality of extrapyramidal motor function", "34": "Action tremor", "35": "Horizontal nystagmus", "36": "Elevated pulmonary artery pressure", "37": "Muscle abnormality related to mitochondrial dysfunction", "38": "Visual loss", "39": "Abnormal activity of mitochondrial respiratory chain", "40": "Abnormal retinal artery morphology", "41": "Respiratory failure", "42": "Reduced visual acuity", "43": "Incoordination", "44": "Increased bone mineral density", "45": "Central scotoma", "46": "Abnormality of pulmonary circulation", "47": "Progressive sensorineural hearing impairment", "48": "Supranuclear gaze palsy", "49": "Scotoma"} |