| {"0": "Frontotemporal dementia", "1": "Unilateral renal agenesis", "2": "Fatigable weakness of bulbar muscles", "3": "Fatigable weakness of respiratory muscles", "4": "Vertebral segmentation defect", "5": "Wide anterior fontanel", "6": "Xerostomia", "7": "Fatigable weakness of swallowing muscles", "8": "Generalized amyotrophy", "9": "Neoplasm of the respiratory system", "10": "Bilateral sensorineural hearing impairment", "11": "Morphological abnormality of the pyramidal tract", "12": "Abnormal larynx physiology", "13": "Motor neuron atrophy", "14": "Abnormality of skeletal muscle fiber size", "15": "Amyotrophic lateral sclerosis", "16": "Abnormal sacrum morphology", "17": "Delayed cranial suture closure", "18": "Arthralgia", "19": "Hemivertebrae", "20": "Rimmed vacuoles", "21": "Facial asymmetry", "22": "Skin dimple", "23": "Abnormal neuron morphology", "24": "Biliary tract abnormality", "25": "Neoplasm of the thyroid gland", "26": "Paresthesia", "27": "Vascular neoplasm", "28": "Postaxial polydactyly", "29": "Preaxial polydactyly", "30": "Cupped ear", "31": "Hypoventilation", "32": "Lower limb amyotrophy", "33": "Horseshoe kidney", "34": "Orthostatic hypotension due to autonomic dysfunction", "35": "Abnormality of the larynx", "36": "Wormian bones", "37": "Ragged red muscle fibers", "38": "Abnormality of the anterior fontanelle", "39": "Iris coloboma", "40": "Abnormal synaptic transmission at the neuromuscular junction", "41": "Limb girdle muscle weakness", "42": "Impaired proprioception", "43": "Abnormal conjunctiva morphology", "44": "Proptosis", "45": "Joint contracture of the hand", "46": "Hyperpituitarism", "47": "Abnormality of salivation", "48": "Sensorimotor neuropathy", "49": "Abnormality of fontanelles"} |