| {"0": "Mental deterioration", "1": "Dementia", "2": "Abnormal circulating lipid concentration", "3": "Cognitive impairment", "4": "Abnormal circulating cholesterol concentration", "5": "Muscle abnormality related to mitochondrial dysfunction", "6": "Myoclonus", "7": "Ventricular hypertrophy", "8": "Supranuclear gaze palsy", "9": "Phenotypic variability", "10": "Clumsiness", "11": "Variable expressivity", "12": "Progressive neurologic deterioration", "13": "Toe walking", "14": "Decreased activity of mitochondrial complex i", "15": "Elevated pulmonary artery pressure", "16": "Mitochondrial myopathy", "17": "Hypertrophic cardiomyopathy", "18": "Abnormal cellular phenotype", "19": "Abnormality of the mitochondrion", "20": "Abnormal retinal artery morphology", "21": "Schizophrenia", "22": "Osteoarthritis", "23": "Cardiac conduction abnormality", "24": "Abnormality of the cerebrospinal fluid", "25": "Abnormality of pulmonary circulation", "26": "Sensorimotor neuropathy", "27": "Abnormal biliary tract morphology", "28": "Abnormal activity of mitochondrial respiratory chain", "29": "Parkinsonism", "30": "Biliary tract abnormality", "31": "Polyneuropathy", "32": "Increased bone mineral density", "33": "Arthritis", "34": "Cherry red spot of the macula", "35": "Poor head control", "36": "Neck muscle weakness", "37": "Mania", "38": "Delusions", "39": "Hypocholesterolemia", "40": "Ventricular arrhythmia", "41": "Left ventricular hypertrophy", "42": "Dental crowding", "43": "Increased csf lactate", "44": "Emg neuropathic changes", "45": "Abnormal csf protein level", "46": "Depression", "47": "Hepatomegaly", "48": "Exercise intolerance", "49": "Abnormal pulmonary interstitial morphology"} |