{"0": "Mental deterioration", "1": "Dementia", "2": "Cognitive impairment", "3": "Abnormal circulating lipid concentration", "4": "Abnormal vascular physiology", "5": "Reduced consciousness confusion", "6": "Splenomegaly", "7": "Abnormal circulating cholesterol concentration", "8": "Progressive neurologic deterioration", "9": "Bulbar signs", "10": "Abnormal urine protein level", "11": "Clumsiness", "12": "Abnormal retinal artery morphology", "13": "Delusions", "14": "Cherry red spot of the macula", "15": "Abnormal csf protein level", "16": "Variable expressivity", "17": "Disproportionate short stature", "18": "Elevated pulmonary artery pressure", "19": "Supranuclear gaze palsy", "20": "Focal segmental glomerulosclerosis", "21": "Myoclonic seizure", "22": "Corneal opacity", "23": "Abnormality of pulmonary circulation", "24": "Biliary tract abnormality", "25": "Hepatomegaly", "26": "Polyneuropathy", "27": "Dysostosis multiplex", "28": "Abnormal biliary tract morphology", "29": "Abnormal tissue metabolite concentration", "30": "Rhizomelia", "31": "Juvenile onset", "32": "Abnormality of the biliary system", "33": "Ventricular hypertrophy", "34": "Hallucinations", "35": "Abnormal pulmonary interstitial morphology", "36": "Progressive psychomotor deterioration", "37": "Delayed puberty", "38": "Respiratory distress", "39": "Arthritis", "40": "Abnormal activity of mitochondrial respiratory chain", "41": "Visual loss", "42": "Loss of speech", "43": "Action tremor", "44": "Myoclonus", "45": "Osteoarthritis", "46": "Increased bone mineral density", "47": "Hepatic failure", "48": "Muscle stiffness", "49": "Abnormal nephron morphology"}