| {"0": "Splenomegaly", "1": "Abnormal circulating cholesterol concentration", "2": "Abnormality of the vasculature of the eye", "3": "Mental deterioration", "4": "Abnormality of the spleen", "5": "Intestinal malrotation", "6": "Abnormal circulating lipid concentration", "7": "Abnormal conjunctiva morphology", "8": "Abnormality of the upper respiratory tract", "9": "Clumsiness", "10": "Hallucinations", "11": "Cardiomegaly", "12": "Disproportionate short stature", "13": "Abnormal tissue metabolite concentration", "14": "Loss of speech", "15": "Abnormality of the cervical spine", "16": "Abnormal retinal vascular morphology", "17": "Abnormal retinal artery morphology", "18": "Abnormal enchondral ossification", "19": "Abnormal visual electrophysiology", "20": "Supranuclear gaze palsy", "21": "Dementia", "22": "Cherry red spot of the macula", "23": "Biliary tract abnormality", "24": "Duplication of hand bones", "25": "Abnormal epiphyseal ossification", "26": "Increased bone mineral density", "27": "Abnormality of head blood vessel", "28": "Recurrent respiratory infections", "29": "Visual loss", "30": "Abnormal biliary tract morphology", "31": "Parkinsonism", "32": "Abnormal exteroceptive sensation", "33": "Abnormal shape of the frontal region", "34": "Contractures of the joints of the upper limbs", "35": "Abnormality of the gingiva", "36": "Abnormality of the biliary system", "37": "Limb ataxia", "38": "Corneal opacity", "39": "Arthritis", "40": "Retinal degeneration", "41": "Hydrops fetalis", "42": "Abnormal pharynx morphology", "43": "Dysostosis multiplex", "44": "Incoordination", "45": "Abnormality of glycolipid metabolism", "46": "Gait ataxia", "47": "Abnormal systemic arterial morphology", "48": "Abnormality of the autonomic nervous system", "49": "Abnormal rib cage morphology"} |