| {"0": "Platyspondyly", "1": "Sarcoma", "2": "Dysdiadochokinesis", "3": "Abnormal glial cell morphology", "4": "Abnormality of the metaphysis", "5": "Neoplasm of the skeletal system", "6": "Organic aciduria", "7": "Abnormal form of the vertebral bodies", "8": "Abnormal circulating dicarboxylic acid concentration", "9": "Abnormal muscle fiber morphology", "10": "Severe muscular hypotonia", "11": "Abnormal synaptic transmission at the neuromuscular junction", "12": "Neoplasm by histology", "13": "Abnormality of circulating enzyme level", "14": "Abnormal urine ph", "15": "Underdeveloped supraorbital ridges", "16": "Sensory neuropathy", "17": "Abnormality of lower limb epiphysis morphology", "18": "Limb undergrowth", "19": "Abnormality of coagulation", "20": "Tachycardia", "21": "Increased susceptibility to fractures", "22": "Abnormal vertebral morphology", "23": "Amyotrophic lateral sclerosis", "24": "Abnormality of the supraorbital ridges", "25": "Neoplasm of the genitourinary tract", "26": "Congenital contracture", "27": "Lipid accumulation in hepatocytes", "28": "Underdeveloped nasal alae", "29": "Neurodegeneration", "30": "Abnormality of hepatobiliary system physiology", "31": "Aplasia hypoplasia involving the nose", "32": "Abnormal circulating protein concentration", "33": "Low anterior hairline", "34": "Abnormal ilium morphology", "35": "Sensorimotor neuropathy", "36": "Macrocytic anemia", "37": "Fasciculations", "38": "Motor neuron atrophy", "39": "Abnormal circulating lipid concentration", "40": "Coma", "41": "Unsteady gait", "42": "Abnormality of limb epiphysis morphology", "43": "Disproportionate short limb short stature", "44": "Abnormality of the calf", "45": "Enlarged thorax", "46": "Abnormality of cranial sutures", "47": "Abnormality of the adrenal glands", "48": "Abnormal femoral head morphology", "49": "Bronchiectasis"} |