| {"0": "Vascular skin abnormality", "1": "Mental deterioration", "2": "Corneal opacity", "3": "Abnormal circulating lipid concentration", "4": "Abnormal circulating cholesterol concentration", "5": "Clumsiness", "6": "Dementia", "7": "Cognitive impairment", "8": "Sensorimotor neuropathy", "9": "Abnormal vertebral morphology", "10": "Abnormal retinal artery morphology", "11": "Abnormal form of the vertebral bodies", "12": "Abnormality of head blood vessel", "13": "Delusions", "14": "Ventricular hypertrophy", "15": "Abnormality of the cerebrospinal fluid", "16": "Abnormal choroid morphology", "17": "Abnormal chorioretinal morphology", "18": "Abnormal vascular physiology", "19": "Cherry red spot of the macula", "20": "Abnormality of upper limb joint", "21": "Pathologic fracture", "22": "Abnormality of femur morphology", "23": "Bulbar signs", "24": "Hepatic failure", "25": "Osteoarthritis", "26": "Incoordination", "27": "Abnormality of hepatobiliary system physiology", "28": "Dermal atrophy", "29": "Left ventricular hypertrophy", "30": "Abnormality of bone mineral density", "31": "Abnormality of epiphysis morphology", "32": "Respiratory distress", "33": "Bruising susceptibility", "34": "Posteriorly rotated ears", "35": "Hypopigmented skin patches", "36": "Horizontal nystagmus", "37": "Disproportionate short stature", "38": "Abnormality of glycolipid metabolism", "39": "Abnormality of pulmonary circulation", "40": "Elevated pulmonary artery pressure", "41": "Increased bone mineral density", "42": "Microretrognathia", "43": "Progressive psychomotor deterioration", "44": "Macular degeneration", "45": "Abnormality of corneal stroma", "46": "Contractures of the joints of the upper limbs", "47": "Hypopigmentation of the skin", "48": "Positional foot deformity", "49": "Proportionate short stature"} |