| {"0": "Abnormal circulating lipid concentration", "1": "Dysostosis multiplex", "2": "Abnormality of extrapyramidal motor function", "3": "Abnormality of glycolipid metabolism", "4": "Cherry red spot of the macula", "5": "Abnormal muscle fiber morphology", "6": "Exaggerated startle response", "7": "Bulbar signs", "8": "Mental deterioration", "9": "Corneal opacity", "10": "Proximal muscle weakness", "11": "Abnormal tissue metabolite concentration", "12": "Dementia", "13": "Splenomegaly", "14": "Abnormal tongue morphology", "15": "Young adult onset", "16": "Hyperconvex nail", "17": "Abnormal retinal artery morphology", "18": "Ascites", "19": "Patellar aplasia", "20": "Sarcoma", "21": "Blindness", "22": "Abnormality of femur morphology", "23": "Delusions", "24": "Arteriosclerosis", "25": "Abnormality of corneal stroma", "26": "Incoordination", "27": "Diarrhea", "28": "Aplasia hypoplasia of the patella", "29": "Abnormality of the vasculature of the eye", "30": "Meningioma", "31": "Coarse facial features", "32": "Hyperintensity of cerebral white matter on mri", "33": "Progressive neurologic deterioration", "34": "Abnormal csf protein level", "35": "Ectopic calcification", "36": "Loss of speech", "37": "Clumsiness", "38": "Epispadias", "39": "Juvenile onset", "40": "Variable expressivity", "41": "Abnormal biliary tract morphology", "42": "Abnormality of the adrenal glands", "43": "Abnormal form of the vertebral bodies", "44": "Toe walking", "45": "Shoulder girdle muscle weakness", "46": "Abnormality of head blood vessel", "47": "Emg abnormality", "48": "Amyotrophic lateral sclerosis", "49": "Abnormal retinal vascular morphology"} |