| {"0": "Optic disc pallor", "1": "Abnormal circulating lipid concentration", "2": "Left ventricular hypertrophy", "3": "Corneal opacity", "4": "Abnormality of coordination", "5": "Abnormal circulating cholesterol concentration", "6": "Impaired proprioception", "7": "Dysmetria", "8": "Muscle abnormality related to mitochondrial dysfunction", "9": "Abnormal social behavior", "10": "Abnormal cellular phenotype", "11": "Mental deterioration", "12": "Abnormal activity of mitochondrial respiratory chain", "13": "Sensorimotor neuropathy", "14": "Ventricular hypertrophy", "15": "Hypertrophic cardiomyopathy", "16": "Abnormality of the mitochondrion", "17": "Increased csf lactate", "18": "Cognitive impairment", "19": "Abnormality of the optic nerve", "20": "Abnormal left ventricle morphology", "21": "Dementia", "22": "Impaired social interactions", "23": "Muscle weakness", "24": "Dilated cardiomyopathy", "25": "Poor eye contact", "26": "Poor head control", "27": "Myoclonus", "28": "Abnormal retinal morphology", "29": "Impaired vibratory sensation", "30": "Incoordination", "31": "Abnormal involuntary eye movements", "32": "Abnormal mitochondria in muscle tissue", "33": "Mitochondrial myopathy", "34": "Optic neuropathy", "35": "Action tremor", "36": "Horizontal nystagmus", "37": "Ventricular arrhythmia", "38": "Abnormality of the cerebrospinal fluid", "39": "Decreased activity of mitochondrial complex i", "40": "Abnormal visual electrophysiology", "41": "Inability to walk", "42": "Abnormal csf metabolite level", "43": "Abnormal muscle fiber morphology", "44": "Disproportionate short stature", "45": "Abnormality of head blood vessel", "46": "Variable expressivity", "47": "Erythema", "48": "Proximal tubulopathy", "49": "Functional motor deficit"} |