{"0": "Abnormal circulating fatty acid concentration", "1": "Organic aciduria", "2": "Dicarboxylic aciduria", "3": "Abnormality of circulating enzyme level", "4": "Malignant neoplasm of the central nervous system", "5": "Neoplasm of the nervous system", "6": "Weight loss", "7": "Acute phase response", "8": "Progressive cerebellar ataxia", "9": "Breast carcinoma", "10": "Abnormal circulating lipid concentration", "11": "Decreased activity of the pyruvate dehydrogenase complex", "12": "Tremor by anatomical site", "13": "Neoplasm of the breast", "14": "Abnormality of coagulation", "15": "Brisk reflexes", "16": "Partial agenesis of the corpus callosum", "17": "Underdeveloped supraorbital ridges", "18": "Proximal muscle weakness", "19": "Slowly progressive", "20": "Skin rash", "21": "Genital neoplasm", "22": "Abnormal urine ph", "23": "Ectrodactyly", "24": "Abnormality of the peritoneum", "25": "Soft tissue sarcoma", "26": "Poikilocytosis", "27": "Abnormality of the mitochondrion", "28": "Contractures of the joints of the lower limbs", "29": "Contractures of the joints of the upper limbs", "30": "Cardiac arrest", "31": "Thickened nuchal skin fold", "32": "Abnormal blood glucose concentration", "33": "Cough", "34": "Fetal ultrasound soft marker", "35": "Posterior embryotoxon", "36": "Vestibular dysfunction", "37": "Metabolic acidosis", "38": "Abnormality of exocrine pancreas physiology", "39": "Myalgia", "40": "Sarcoma", "41": "Abnormality of female external genitalia", "42": "Elevated hepatic transaminase", "43": "Scapular winging", "44": "Fatigue", "45": "Abnormality of cardiovascular system electrophysiology", "46": "Decreased circulating antibody level", "47": "Narrow palate", "48": "Open bite", "49": "Limb joint contracture"}