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21f1de0 | 1 | {"0": "Abnormal pleura morphology", "1": "Adducted thumb", "2": "Action tremor", "3": "Sensorimotor neuropathy", "4": "Exercise intolerance", "5": "Abnormality of the mitochondrion", "6": "Abnormality of the parathyroid gland", "7": "Abnormal circulating lipid concentration", "8": "Rhizomelia", "9": "Central scotoma", "10": "Hyperreflexia", "11": "Abnormal biliary tract morphology", "12": "Abnormal urine ph", "13": "Scotoma", "14": "Postural tremor", "15": "Slowly progressive", "16": "Cerebral visual impairment", "17": "Abnormal cellular phenotype", "18": "Biliary tract abnormality", "19": "Abnormality of retinal pigmentation", "20": "Impaired proprioception", "21": "Disproportionate short limb short stature", "22": "Abnormal basal ganglia mri signal intensity", "23": "Bilateral sensorineural hearing impairment", "24": "Mildly elevated creatine kinase", "25": "Chorea", "26": "Myopathy", "27": "Abnormality of the thyroid gland", "28": "Abnormal muscle fiber morphology", "29": "Hypogonadotropic hypogonadism", "30": "Neonatal hypoglycemia", "31": "Macrovesicular hepatic steatosis", "32": "Cardiac conduction abnormality", "33": "Upper motor neuron dysfunction", "34": "Osteopenia", "35": "Abnormal odontoid tissue morphology", "36": "Abnormal circulating pyruvate family amino acid concentration", "37": "Ragged red muscle fibers", "38": "Abnormal csf protein level", "39": "Progressive cerebellar ataxia", "40": "Ventricular hypertrophy", "41": "Dicarboxylic aciduria", "42": "Abnormality of the basal ganglia", "43": "Episodic vomiting", "44": "Focal t2 hyperintense basal ganglia lesion", "45": "Ventricular arrhythmia", "46": "Gait ataxia", "47": "Abnormality of the gastric mucosa", "48": "Positive romberg sign", "49": "Pigmentary retinopathy"} |