{"0": "Abnormal circulating lipid concentration", "1": "Sensorimotor neuropathy", "2": "Muscle abnormality related to mitochondrial dysfunction", "3": "Horizontal nystagmus", "4": "Abnormal circulating cholesterol concentration", "5": "Abnormal activity of mitochondrial respiratory chain", "6": "Impaired social interactions", "7": "Ventricular arrhythmia", "8": "Disproportionate short stature", "9": "Action tremor", "10": "Increased csf lactate", "11": "Optic disc pallor", "12": "Optic neuropathy", "13": "Nephrotic syndrome", "14": "Hyperlipidemia", "15": "Respiratory distress", "16": "Muscle stiffness", "17": "Mitochondrial myopathy", "18": "Myoclonic seizure", "19": "Hepatic failure", "20": "Abnormal muscle fiber morphology", "21": "Corneal opacity", "22": "Poor eye contact", "23": "Ectopic calcification", "24": "Arthritis", "25": "Abnormal glycosylation", "26": "Generalized myoclonic seizure", "27": "Variable expressivity", "28": "Abnormality of pulmonary circulation", "29": "Toe walking", "30": "Abnormal csf metabolite level", "31": "Fetal distress", "32": "Abnormality of head blood vessel", "33": "Abnormal vascular physiology", "34": "Abnormal enchondral ossification", "35": "Abnormality of the ribs", "36": "Hypertriglyceridemia", "37": "Abnormal autonomic nervous system physiology", "38": "Schizophrenia", "39": "Bulbar signs", "40": "Abnormal brainstem mri signal intensity", "41": "Abnormal basal ganglia mri signal intensity", "42": "Abnormal epiphyseal ossification", "43": "Elevated pulmonary artery pressure", "44": "Ascites", "45": "Rigidity", "46": "Biliary tract abnormality", "47": "Generalized onset motor seizure", "48": "Abnormality of femur morphology", "49": "Abnormal visual electrophysiology"}