| {"0": "Abnormal muscle fiber morphology", "1": "Abnormality of femur morphology", "2": "Disproportionate short stature", "3": "Abnormal femoral neck morphology", "4": "Abnormal femoral neck head morphology", "5": "Disproportionate short limb short stature", "6": "Platyspondyly", "7": "Hand polydactyly", "8": "Increased serum pyruvate", "9": "Agenesis of corpus callosum", "10": "Ventricular hypertrophy", "11": "Abnormal circulating carbohydrate concentration", "12": "Sensory axonal neuropathy", "13": "Sensory neuropathy", "14": "Variable expressivity", "15": "Abnormal thoracic spine morphology", "16": "Lissencephaly", "17": "Mania", "18": "Metaphyseal widening", "19": "Aplasia hypoplasia involving bones of the thorax", "20": "Duplication involving bones of the feet", "21": "Abnormality of the knee", "22": "Abnormality of the calf", "23": "Hydrocephalus", "24": "Abnormality of fontanelles", "25": "Delayed cranial suture closure", "26": "Abnormality of the cerebrospinal fluid", "27": "Abnormality of pulmonary circulation", "28": "Knee flexion contracture", "29": "Intestinal malrotation", "30": "Peripheral axonal neuropathy", "31": "Abnormality of epiphysis morphology", "32": "Abnormal diaphysis morphology", "33": "Elevated pulmonary artery pressure", "34": "Bowing of the legs", "35": "Abnormal enchondral ossification", "36": "Exercise intolerance", "37": "Cardiac conduction abnormality", "38": "Limb undergrowth", "39": "Tetraplegia tetraparesis", "40": "Abnormal clavicle morphology", "41": "Abnormality of the parathyroid gland", "42": "Abnormality of the mitochondrion", "43": "Peripheral axonal degeneration", "44": "Abnormal circulating dicarboxylic acid concentration", "45": "Abnormal lower limb bone morphology", "46": "Abnormal circulating lipid concentration", "47": "Abnormal brainstem mri signal intensity", "48": "Severe short stature", "49": "Talipes equinovarus"} |