| {"0": "Mental deterioration", "1": "Disproportionate short stature", "2": "Polyneuropathy", "3": "Hyperintensity of cerebral white matter on mri", "4": "Bulbar signs", "5": "Abnormality of hepatobiliary system physiology", "6": "Young adult onset", "7": "Scotoma", "8": "Abnormal retinal artery morphology", "9": "Disproportionate short limb short stature", "10": "Rhizomelia", "11": "Splenomegaly", "12": "Central scotoma", "13": "Severe short stature", "14": "Abnormal circulating fatty acid concentration", "15": "Progressive neurologic deterioration", "16": "Elevated hepatic transaminase", "17": "Abnormality of the mitochondrion", "18": "Abnormal epiphyseal ossification", "19": "Abnormality of head blood vessel", "20": "Hypocholesterolemia", "21": "Generalized onset seizure", "22": "Arthritis", "23": "Abnormal lactate dehydrogenase level", "24": "Motor seizure", "25": "Increased bone mineral density", "26": "Abnormal circulating lipid concentration", "27": "Pathologic fracture", "28": "Nephropathy", "29": "Elevated pulmonary artery pressure", "30": "Reduced visual acuity", "31": "Horizontal nystagmus", "32": "Abnormality of the upper respiratory tract", "33": "Respiratory distress", "34": "Abnormality of femur morphology", "35": "Abnormal biliary tract morphology", "36": "Blindness", "37": "Abnormal circulating pyruvate family amino acid concentration", "38": "Ragged red muscle fibers", "39": "Abnormality of skull ossification", "40": "Poor head control", "41": "Generalized myoclonic seizure", "42": "Focal t2 hyperintense brainstem lesion", "43": "Optic neuropathy", "44": "Inability to walk", "45": "Abnormal pharynx morphology", "46": "Central apnea", "47": "Mitochondrial myopathy", "48": "Avascular necrosis", "49": "Underdeveloped supraorbital ridges"} |