{"0": "Abnormal circulating lipid concentration", "1": "Disproportionate short stature", "2": "Limited elbow movement", "3": "Disproportionate short limb short stature", "4": "Proportionate short stature", "5": "Thin ribs", "6": "Muscle stiffness", "7": "Abnormal choroid morphology", "8": "Abnormality of the elbow", "9": "Intellectual disability progressive", "10": "Contractures of the joints of the upper limbs", "11": "Abnormal chorioretinal morphology", "12": "Abnormal muscle fiber morphology", "13": "Submucous cleft of soft and hard palate", "14": "Severe short stature", "15": "Sensorimotor neuropathy", "16": "Heart block", "17": "Abnormal delivery", "18": "Abnormality of upper limb joint", "19": "Dysmetria", "20": "Aplasia hypoplasia involving bones of the thorax", "21": "Hyperlipidemia", "22": "Knee flexion contracture", "23": "Biliary tract abnormality", "24": "Aplasia hypoplasia of the optic nerve", "25": "Deep palmar crease", "26": "Optic nerve hypoplasia", "27": "Elbow flexion contracture", "28": "Abnormal enchondral ossification", "29": "Abnormality of the ribs", "30": "Coxa vara", "31": "Areflexia of lower limbs", "32": "Abnormal cardiac ventricular function", "33": "Abnormal femoral neck head morphology", "34": "Impaired proprioception", "35": "Cardiac conduction abnormality", "36": "Abnormal biliary tract morphology", "37": "Abnormal pleura morphology", "38": "Dermal atrophy", "39": "Underdeveloped supraorbital ridges", "40": "Long eyelashes", "41": "Abnormal femoral neck morphology", "42": "Abnormal circulating dicarboxylic acid concentration", "43": "Abnormal heart valve morphology", "44": "Ventricular hypertrophy", "45": "Laryngomalacia", "46": "Kyphoscoliosis", "47": "Iris coloboma", "48": "Abnormality of the vertebral endplates", "49": "Aplasia hypoplasia involving the femoral head and neck"}