| {"0": "Dysostosis multiplex", "1": "Bulbar signs", "2": "Hyperconvex nail", "3": "Thickened calvaria", "4": "Retinal detachment", "5": "Abnormal lumbar spine morphology", "6": "Delusions", "7": "Abnormal pericardium morphology", "8": "Capillary hemangioma", "9": "Abnormal csf protein level", "10": "Neonatal hypoglycemia", "11": "Abnormality of corneal stroma", "12": "Cns demyelination", "13": "Abnormal retinal artery morphology", "14": "Arteriosclerosis", "15": "Aplasia hypoplasia involving the vertebral column", "16": "Ragged red muscle fibers", "17": "Increased bone mineral density", "18": "Peripheral demyelination", "19": "Hyperextensible skin", "20": "Increased circulating antibody level", "21": "Abnormal endocardium morphology", "22": "Thoracic kyphosis", "23": "Abnormal iliac wing morphology", "24": "Left ventricular hypertrophy", "25": "Prenatal maternal abnormality", "26": "Loss of speech", "27": "Cavum septum pellucidum", "28": "Muscle stiffness", "29": "Ascites", "30": "Epiphyseal stippling", "31": "Proximal amyotrophy", "32": "Decreased muscle mass", "33": "Abnormal left ventricle morphology", "34": "Abnormality of head blood vessel", "35": "Abnormal circulating cholesterol concentration", "36": "Emg chronic denervation signs", "37": "Limb ataxia", "38": "Mania", "39": "Abnormal biliary tract morphology", "40": "Abnormal thoracic spine morphology", "41": "Abnormal motor nerve conduction velocity", "42": "Abnormal femoral head morphology", "43": "Duplication involving bones of the feet", "44": "Nonimmune hydrops fetalis", "45": "Hammertoe", "46": "Ventricular hypertrophy", "47": "Abnormal circulating igm level", "48": "Limited hip movement", "49": "Elevated pulmonary artery pressure"} |