| {"0": "Nephropathy", "1": "Ventricular hypertrophy", "2": "Duplication involving bones of the feet", "3": "Vascular skin abnormality", "4": "Elevated pulmonary artery pressure", "5": "Abnormality of pulmonary circulation", "6": "Abnormal muscle fiber morphology", "7": "Biliary tract abnormality", "8": "Abnormal biliary tract morphology", "9": "Action tremor", "10": "Cns demyelination", "11": "Delayed cranial suture closure", "12": "Focal segmental glomerulosclerosis", "13": "Delusions", "14": "Postural tremor", "15": "Decreased activity of mitochondrial complex i", "16": "Abnormal vascular physiology", "17": "Bulbar signs", "18": "Cognitive impairment", "19": "Dementia", "20": "Progressive visual loss", "21": "Young adult onset", "22": "Glomerular sclerosis", "23": "Muscle stiffness", "24": "Postaxial foot polydactyly", "25": "Abnormality of the 5th toe", "26": "Pathologic fracture", "27": "Diffuse cerebral atrophy", "28": "Visual loss", "29": "Hand polydactyly", "30": "Arthritis", "31": "Optic disc pallor", "32": "Cardiac conduction abnormality", "33": "Polydactyly", "34": "Horizontal nystagmus", "35": "Abnormal left ventricle morphology", "36": "Dilated cardiomyopathy", "37": "Abnormal shape of the frontal region", "38": "Abnormal cardiac ventricular function", "39": "Abnormality of corneal stroma", "40": "Abnormal circulating lipid concentration", "41": "Episodic vomiting", "42": "Neck muscle weakness", "43": "Clonus", "44": "Abnormal activity of mitochondrial respiratory chain", "45": "Osteopenia", "46": "Postaxial polydactyly", "47": "Telangiectasia", "48": "Hypokinesia", "49": "Variable expressivity"} |