| {"0": "Juvenile onset", "1": "Cardiomegaly", "2": "Abnormal circulating cholesterol concentration", "3": "Abnormality of glycolipid metabolism", "4": "Cherry red spot of the macula", "5": "Abnormality of head blood vessel", "6": "Muscle abnormality related to mitochondrial dysfunction", "7": "Dysostosis multiplex", "8": "Decreased activity of mitochondrial complex i", "9": "Clumsiness", "10": "Abnormal retinal artery morphology", "11": "Progressive neurologic deterioration", "12": "Hyperintensity of cerebral white matter on mri", "13": "Abnormal tissue metabolite concentration", "14": "Organic aciduria", "15": "Arteriosclerosis", "16": "Abnormal urine ph", "17": "Loss of speech", "18": "Mitochondrial myopathy", "19": "Dementia", "20": "Cirrhosis", "21": "Coma", "22": "Optic neuropathy", "23": "Fasciculations", "24": "Biliary tract abnormality", "25": "Exercise intolerance", "26": "Increased serum pyruvate", "27": "Corneal opacity", "28": "Hepatosplenomegaly", "29": "Abnormal activity of mitochondrial respiratory chain", "30": "Bulbar signs", "31": "Ascites", "32": "Platyspondyly", "33": "Ventricular arrhythmia", "34": "Abnormal mitochondria in muscle tissue", "35": "Paroxysmal involuntary eye movements", "36": "Impaired proprioception", "37": "Abnormal urine carboxylic acid level", "38": "Abnormal basal ganglia mri signal intensity", "39": "Focal t2 hyperintense brainstem lesion", "40": "Abnormal retinal vascular morphology", "41": "Memory impairment", "42": "Abnormal biliary tract morphology", "43": "Abnormal periventricular white matter morphology", "44": "Abnormal left ventricle morphology", "45": "Absent septum pellucidum", "46": "Sensorimotor neuropathy", "47": "Ventricular hypertrophy", "48": "Abnormal circulating carbohydrate concentration", "49": "Abnormal brainstem mri signal intensity"} |