| {"0": "Renal dysplasia", "1": "Absent fingernail", "2": "Dyscalculia", "3": "Fatigable weakness of swallowing muscles", "4": "Fatigable weakness of respiratory muscles", "5": "Episodic vomiting", "6": "Fatigable weakness of bulbar muscles", "7": "Amyotrophic lateral sclerosis", "8": "Thin skin", "9": "Hemiparesis", "10": "Anonychia", "11": "Recurrent fractures", "12": "Abnormal astrocyte morphology", "13": "Blue sclerae", "14": "Abnormal pleura morphology", "15": "Ragged red muscle fibers", "16": "Abnormal ureter morphology", "17": "Abnormal sclera morphology", "18": "Anal atresia", "19": "Xerostomia", "20": "Dysphasia", "21": "Bulbar signs", "22": "Hypoplasia of the pons", "23": "Gaze evoked nystagmus", "24": "Areflexia of lower limbs", "25": "Neurodegeneration", "26": "Bruising susceptibility", "27": "Sloping forehead", "28": "Abnormal morphology of the musculature of the neck", "29": "Abnormality of the umbilical cord", "30": "Retinal vascular tortuosity", "31": "Erythema", "32": "Abnormal larynx physiology", "33": "Tonic seizure", "34": "Focal t2 hyperintense brainstem lesion", "35": "Submucous cleft of soft and hard palate", "36": "Arthralgia", "37": "Retinopathy", "38": "Neoplasm of the respiratory system", "39": "Posterior embryotoxon", "40": "Migraine", "41": "Elbow flexion contracture", "42": "Abnormal pons morphology", "43": "Abnormal brainstem mri signal intensity", "44": "Abnormal mitochondria in muscle tissue", "45": "Deep palmar crease", "46": "Impaired pain sensation", "47": "Diffuse cerebral atrophy", "48": "Microcornea", "49": "Neoplasm of the skeletal system"} |