| {"0": "Vascular skin abnormality", "1": "Cognitive impairment", "2": "Abnormal circulating lipid concentration", "3": "Pace of progression", "4": "Abnormality of fontanelles", "5": "Abnormal social behavior", "6": "Abnormality of epiphysis morphology", "7": "Optic disc pallor", "8": "Abnormal muscle fiber morphology", "9": "Slowly progressive", "10": "Delayed cranial suture closure", "11": "Ventricular arrhythmia", "12": "Abnormal glycosylation", "13": "Abnormal circulating cholesterol concentration", "14": "Dementia", "15": "Impaired social interactions", "16": "Muscle abnormality related to mitochondrial dysfunction", "17": "Abnormality of the optic nerve", "18": "Corneal opacity", "19": "Mitochondrial myopathy", "20": "Abnormal form of the vertebral bodies", "21": "Mental deterioration", "22": "Abnormality of hepatobiliary system physiology", "23": "Poor eye contact", "24": "Abnormal protein glycosylation", "25": "Hepatic failure", "26": "Abnormality of femur morphology", "27": "Abnormal vertebral morphology", "28": "Abnormal joint morphology", "29": "Contractures of the joints of the lower limbs", "30": "Abnormal metabolism", "31": "Toe walking", "32": "Abnormal activity of mitochondrial respiratory chain", "33": "Dysmetria", "34": "Disproportionate short stature", "35": "Abnormality of the achilles tendon", "36": "Functional abnormality of the inner ear", "37": "Arthritis", "38": "Peripheral axonal neuropathy", "39": "Abnormality of the ribs", "40": "Decreased activity of mitochondrial complex i", "41": "Abnormal lower limb bone morphology", "42": "Hepatomegaly", "43": "Erythema", "44": "Proportionate short stature", "45": "Abnormality of the wrist", "46": "Abnormality of lower limb joint", "47": "Aplasia hypoplasia involving bones of the thorax", "48": "Subcutaneous nodule", "49": "Emg abnormality"} |