{"0": "Cerebral palsy", "1": "Hyperactive deep tendon reflexes", "2": "Abnormal circulating protein concentration", "3": "Colorectal polyposis", "4": "Syncope", "5": "Aplasia hypoplasia of the fibula", "6": "Abnormality of the inner ear", "7": "Camptodactyly of toe", "8": "Abnormality of cardiovascular system electrophysiology", "9": "Mask like facies", "10": "Perseveration", "11": "Abnormality of secondary sexual hair", "12": "Distal upper limb muscle weakness", "13": "Tachycardia", "14": "Eeg with multifocal slow activity", "15": "Meningioma", "16": "Hypocalcemia", "17": "Panniculitis", "18": "Abnormal platelet volume", "19": "Abnormal cardiac test", "20": "Aplasia hypoplasia of the ulna", "21": "Absent facial hair", "22": "Pelvic girdle muscle weakness", "23": "Neoplasm of the rectum", "24": "Central hypothyroidism", "25": "Abnormality of the endometrium", "26": "Myotonia", "27": "Absent hair", "28": "Ovarian neoplasm", "29": "Achilles tendon contracture", "30": "Abnormality of the achilles tendon", "31": "Decreased cervical spine flexion due to contractures of posterior cervical muscles", "32": "Displacement of the urethral meatus", "33": "Organic aciduria", "34": "Neoplasm of the male external genitalia", "35": "Hyporeflexia", "36": "Abnormal thumb morphology", "37": "Increased head circumference", "38": "Regional abnormality of skin", "39": "Gynecomastia", "40": "Abnormality of circulating enzyme level", "41": "Abnormality of the thymus", "42": "Aplasia hypoplasia of the thymus", "43": "Gastrointestinal atresia", "44": "Abnormality of the mitochondrion", "45": "Cerebellar atrophy", "46": "Abnormal right ventricle morphology", "47": "Recurrent pneumonia", "48": "Amaurosis fugax", "49": "Decreased circulating igg level"}