| {"0": "Corneal opacity", "1": "Mental deterioration", "2": "Abnormal circulating lipid concentration", "3": "Abnormality of corneal stroma", "4": "Dementia", "5": "Abnormal circulating cholesterol concentration", "6": "Arthritis", "7": "Splenomegaly", "8": "Abnormal retinal artery morphology", "9": "Abnormality of head blood vessel", "10": "Abnormality of femur morphology", "11": "Abnormality of the vasculature of the eye", "12": "Abnormal tongue morphology", "13": "Biliary tract abnormality", "14": "Clumsiness", "15": "Toe walking", "16": "Increased bone mineral density", "17": "Supranuclear gaze palsy", "18": "Polyneuropathy", "19": "Abnormal conjunctiva morphology", "20": "Abnormal biliary tract morphology", "21": "Agitation", "22": "Cherry red spot of the macula", "23": "Abnormal epiphyseal ossification", "24": "Abnormal tissue metabolite concentration", "25": "Neuronal loss in central nervous system", "26": "Delusions", "27": "Abnormality of the tongue", "28": "Osteopenia", "29": "Ichthyosis", "30": "Abnormal autonomic nervous system physiology", "31": "Abnormal csf protein level", "32": "Arthralgia", "33": "Abnormal delivery", "34": "Airway obstruction", "35": "Protruding tongue", "36": "Osteoarthritis", "37": "Laryngomalacia", "38": "Hallucinations", "39": "Abnormal muscle fiber morphology", "40": "Hypokinesia", "41": "Skeletal dysplasia", "42": "Skeletal muscle hypertrophy", "43": "Focal segmental glomerulosclerosis", "44": "Macroglossia", "45": "Loss of speech", "46": "Abnormality of the autonomic nervous system", "47": "Disproportionate short stature", "48": "Gait ataxia", "49": "Cognitive impairment"} |