| {"0": "Abnormality of limb epiphysis morphology", "1": "Gonadal neoplasm", "2": "Thin ribs", "3": "Disproportionate short limb short stature", "4": "Increased serum pyruvate", "5": "Muscle fiber atrophy", "6": "Delayed cranial suture closure", "7": "Limited elbow movement", "8": "Abnormality of the parathyroid gland", "9": "Paraparesis", "10": "Platyspondyly", "11": "Abnormal circulating bilirubin concentration", "12": "Recurrent fractures", "13": "Abnormal muscle fiber morphology", "14": "Amyotrophic lateral sclerosis", "15": "Childhood onset", "16": "Sensorimotor neuropathy", "17": "Severe muscular hypotonia", "18": "Emg myopathic abnormalities", "19": "Abnormal circulating cholesterol concentration", "20": "Disproportionate short stature", "21": "Spastic paraparesis", "22": "Coxa vara", "23": "Severe short stature", "24": "Dysdiadochokinesis", "25": "Micromelia", "26": "Submucous cleft of soft and hard palate", "27": "Areflexia of lower limbs", "28": "Wormian bones", "29": "Titubation", "30": "Abnormal upper motor neuron morphology", "31": "Abnormal enchondral ossification", "32": "Toe walking", "33": "Abnormal circulating dicarboxylic acid concentration", "34": "Abnormal circulating fatty acid concentration", "35": "Abnormal circulating carbohydrate concentration", "36": "Abnormality of lower limb epiphysis morphology", "37": "Abnormal delivery", "38": "Genu varum", "39": "Tetraplegia tetraparesis", "40": "Exercise intolerance", "41": "Genital neoplasm", "42": "Dicarboxylic aciduria", "43": "Impaired proprioception", "44": "Pituitary adenoma", "45": "Weakness of muscles of respiration", "46": "Abnormal femoral neck morphology", "47": "Sensory axonal neuropathy", "48": "Motor neuron atrophy", "49": "Abnormal neuron morphology"} |