| {"0": "Abnormality of head blood vessel", "1": "Abnormal retinal artery morphology", "2": "Corneal opacity", "3": "Dementia", "4": "Biliary tract abnormality", "5": "Abnormality of corneal stroma", "6": "Bulbar signs", "7": "Central scotoma", "8": "Cherry red spot of the macula", "9": "Abnormal biliary tract morphology", "10": "Scotoma", "11": "Disproportionate short stature", "12": "Abnormal tissue metabolite concentration", "13": "Postural tremor", "14": "Abnormal circulating cholesterol concentration", "15": "Abnormal retinal vascular morphology", "16": "Airway obstruction", "17": "Hand polydactyly", "18": "Duplication involving bones of the feet", "19": "Progressive visual loss", "20": "Disproportionate short limb short stature", "21": "Abnormality of glycolipid metabolism", "22": "Abnormality of extrapyramidal motor function", "23": "Arteriosclerosis", "24": "Delusions", "25": "Elevated pulmonary artery pressure", "26": "Ectopic anus", "27": "Myoclonic seizure", "28": "Mental deterioration", "29": "Abnormal chorioretinal morphology", "30": "Abnormal choroid morphology", "31": "Abnormal csf protein level", "32": "Abnormality of femur morphology", "33": "Paraparesis", "34": "Abnormality of pulmonary circulation", "35": "Abnormal enchondral ossification", "36": "Variable expressivity", "37": "Limb ataxia", "38": "Progressive neurologic deterioration", "39": "Arthritis", "40": "Sensory axonal neuropathy", "41": "Periventricular white matter hyperintensities", "42": "Abnormal circulating lipid concentration", "43": "Abnormal peripheral myelination", "44": "Hydrocephalus", "45": "Action tremor", "46": "Abnormal pleura morphology", "47": "Bruising susceptibility", "48": "Absent septum pellucidum", "49": "Adducted thumb"} |