| {"0": "Optic disc pallor", "1": "Visual loss", "2": "Action tremor", "3": "Central scotoma", "4": "Abnormal circulating carbohydrate concentration", "5": "Respiratory distress", "6": "Generalized myoclonic seizure", "7": "Scotoma", "8": "Increased serum pyruvate", "9": "Muscle abnormality related to mitochondrial dysfunction", "10": "Dementia", "11": "Abnormal activity of mitochondrial respiratory chain", "12": "Rigidity", "13": "Bulbar signs", "14": "Increased csf lactate", "15": "Joint contracture of the hand", "16": "Psychomotor deterioration", "17": "Disproportionate short stature", "18": "Postural tremor", "19": "Muscle stiffness", "20": "Disproportionate short limb short stature", "21": "Rhizomelia", "22": "Abnormal muscle fiber morphology", "23": "Impaired social interactions", "24": "Abnormal vascular physiology", "25": "Abnormal csf metabolite level", "26": "Neuronal loss in central nervous system", "27": "Decreased activity of mitochondrial complex i", "28": "Capillary hemangioma", "29": "Peripheral demyelination", "30": "Impaired proprioception", "31": "Abnormal brainstem mri signal intensity", "32": "Fever", "33": "Mitochondrial myopathy", "34": "Contractures of the joints of the upper limbs", "35": "Leukodystrophy", "36": "Pigmentary retinopathy", "37": "Clonus", "38": "Ventricular hypertrophy", "39": "Visual field defect", "40": "Young adult onset", "41": "Myoclonic seizure", "42": "Abnormally lax or hyperextensible skin", "43": "Poor eye contact", "44": "Optic neuropathy", "45": "Sensorimotor neuropathy", "46": "Abnormal mitochondria in muscle tissue", "47": "Ragged red muscle fibers", "48": "Abnormality of tibia morphology", "49": "Unusual infection by anatomical site"} |