| {"0": "Cognitive impairment", "1": "Abnormal circulating lipid concentration", "2": "Mental deterioration", "3": "Abnormality of femur morphology", "4": "Optic disc pallor", "5": "Dementia", "6": "Abnormal circulating cholesterol concentration", "7": "Variable expressivity", "8": "Abnormality of the tongue", "9": "Abnormality of the optic nerve", "10": "Abnormal social behavior", "11": "Sensorimotor neuropathy", "12": "Corneal opacity", "13": "Abnormal retinal artery morphology", "14": "Muscle abnormality related to mitochondrial dysfunction", "15": "Abnormal tongue morphology", "16": "Abnormality of head blood vessel", "17": "Clumsiness", "18": "Abnormal muscle fiber morphology", "19": "Arthritis", "20": "Abnormal vascular physiology", "21": "Action tremor", "22": "Abnormal activity of mitochondrial respiratory chain", "23": "Left ventricular hypertrophy", "24": "Progressive neurologic deterioration", "25": "Phenotypic variability", "26": "Ectopic calcification", "27": "Myoclonus", "28": "Abnormal visual electrophysiology", "29": "Abnormal heart valve morphology", "30": "Blindness", "31": "Abnormality of visual evoked potentials", "32": "Loss of speech", "33": "Decreased activity of mitochondrial complex i", "34": "Myoclonic seizure", "35": "Hyperlipidemia", "36": "Reduced visual acuity", "37": "Poor head control", "38": "Biliary tract abnormality", "39": "Hepatomegaly", "40": "Spastic paraparesis", "41": "Contractures of the joints of the upper limbs", "42": "Abnormal brainstem mri signal intensity", "43": "Paraparesis", "44": "Mitochondrial myopathy", "45": "Bulbar signs", "46": "Pathologic fracture", "47": "Abnormality of the cerebrospinal fluid", "48": "Vascular skin abnormality", "49": "Osteoarthritis"} |