{"0": "Abnormal lower limb bone morphology", "1": "Abnormality of epiphysis morphology", "2": "Disproportionate short stature", "3": "Vascular skin abnormality", "4": "Abnormal circulating lipid concentration", "5": "Abnormal vertebral morphology", "6": "Abnormal enchondral ossification", "7": "Ventricular arrhythmia", "8": "Abnormal muscle fiber morphology", "9": "Abnormal form of the vertebral bodies", "10": "Abnormality of the metacarpal bones", "11": "Hepatomegaly", "12": "Abnormality of upper limb joint", "13": "Abnormal epiphyseal ossification", "14": "Abnormal circulating cholesterol concentration", "15": "Abnormal metacarpal morphology", "16": "Ascites", "17": "Sensorimotor neuropathy", "18": "Abnormality of femur morphology", "19": "Ectopic calcification", "20": "Disproportionate short limb short stature", "21": "Contractures of the joints of the upper limbs", "22": "Myoclonus", "23": "Increased bone mineral density", "24": "Abnormal pharynx morphology", "25": "Biliary tract abnormality", "26": "Epiphyseal stippling", "27": "Abnormal abdomen morphology", "28": "Platyspondyly", "29": "Abnormality of the lymphatic system", "30": "Hepatic failure", "31": "Abnormal bone structure", "32": "Generalized myoclonic seizure", "33": "Aplasia hypoplasia involving the vertebral column", "34": "Abnormality of corneal stroma", "35": "Abnormal biliary tract morphology", "36": "Abnormality of head blood vessel", "37": "Abnormality of the upper respiratory tract", "38": "Splenomegaly", "39": "Action tremor", "40": "Abnormal retinal artery morphology", "41": "Bruising susceptibility", "42": "Bulbar signs", "43": "Abnormality of the spleen", "44": "Abnormal femoral neck head morphology", "45": "Abnormal peripheral nervous system physiology", "46": "Abnormality of the wrist", "47": "Corneal opacity", "48": "Respiratory distress", "49": "Myoclonic seizure"}