| {"0": "Abnormality of the gingiva", "1": "Dementia", "2": "Hallucinations", "3": "Juvenile onset", "4": "Ventricular arrhythmia", "5": "Cherry red spot of the macula", "6": "Abnormal oral mucosa morphology", "7": "Abnormal circulating cholesterol concentration", "8": "Abnormality of glycolipid metabolism", "9": "Abnormal retinal vascular morphology", "10": "Abnormality of corneal stroma", "11": "Abnormal autonomic nervous system physiology", "12": "Corneal opacity", "13": "Ascites", "14": "Loss of speech", "15": "Abnormality of the vasculature of the eye", "16": "Heterogeneous", "17": "Arteriosclerosis", "18": "Dilated cardiomyopathy", "19": "Mental deterioration", "20": "Ectopic calcification", "21": "Joint contracture of the hand", "22": "Cardiomegaly", "23": "Disproportionate short stature", "24": "Aplasia hypoplasia of the skin", "25": "Agitation", "26": "Abnormal biliary tract morphology", "27": "Sparse eyebrow", "28": "Respiratory failure", "29": "Aplasia hypoplasia of the eyebrow", "30": "Biliary tract abnormality", "31": "Abnormal vascular physiology", "32": "Disproportionate short limb short stature", "33": "Bulbar signs", "34": "Abnormal visual electrophysiology", "35": "Rigidity", "36": "Fasciculations", "37": "Restlessness", "38": "Arthritis", "39": "Splenomegaly", "40": "Neuronal loss in central nervous system", "41": "Increased bone mineral density", "42": "Bone pain", "43": "Emg neuropathic changes", "44": "Abnormal exteroceptive sensation", "45": "Psychosis", "46": "Myoclonus", "47": "Cardiac conduction abnormality", "48": "Gingival overgrowth", "49": "Abnormal circulating lipid concentration"} |