| {"0": "Abnormal circulating lipid concentration", "1": "Pain", "2": "Abnormal synaptic transmission at the neuromuscular junction", "3": "Rhizomelia", "4": "Abnormality of the mitochondrion", "5": "Muscle spasm", "6": "Abnormality of circulating enzyme level", "7": "Abnormality of the alveolar ridges", "8": "Abnormal circulating protein concentration", "9": "Abnormal cellular phenotype", "10": "Metatarsus adductus", "11": "Abnormal csf protein level", "12": "Disproportionate short limb short stature", "13": "Abnormal brainstem mri signal intensity", "14": "Proximal amyotrophy", "15": "Abnormal circulating carbohydrate concentration", "16": "Increased serum pyruvate", "17": "Macrocytic anemia", "18": "Spinal canal stenosis", "19": "Lethargy", "20": "Abnormality of the achilles tendon", "21": "X linked recessive inheritance", "22": "Abnormal blood glucose concentration", "23": "Fatigable weakness of respiratory muscles", "24": "Sensorimotor neuropathy", "25": "Sarcoma", "26": "Abnormality of lipoprotein cholesterol concentration", "27": "Abnormal ldl cholesterol concentration", "28": "Hepatomegaly", "29": "Fatigable weakness of swallowing muscles", "30": "Gonosomal inheritance", "31": "Abnormal muscle fiber morphology", "32": "Multifocal epileptiform discharges", "33": "Xerostomia", "34": "Abnormality of salivation", "35": "Neoplasm of the skeletal system", "36": "Poor speech", "37": "Fasciculations", "38": "Lipid accumulation in hepatocytes", "39": "Rimmed vacuoles", "40": "Achilles tendon contracture", "41": "Myalgia", "42": "Frontotemporal dementia", "43": "Limb undergrowth", "44": "Abnormality of the metaphysis", "45": "Skin nodule", "46": "Fetal distress", "47": "Skeletal muscle atrophy", "48": "Abnormality of humoral immunity", "49": "Hypertriglyceridemia"} |