| {"0": "Schizophrenia", "1": "Ectrodactyly", "2": "External ear malformation", "3": "Amyotrophic lateral sclerosis", "4": "Submucous cleft of soft and hard palate", "5": "Aganglionic megacolon", "6": "Fatigable weakness of respiratory muscles", "7": "Fatigable weakness of bulbar muscles", "8": "Personality changes", "9": "Wormian bones", "10": "Fatigable weakness of swallowing muscles", "11": "Xerostomia", "12": "Elbow flexion contracture", "13": "Multiple cafe au lait spots", "14": "Toe walking", "15": "Cerebral palsy", "16": "Unilateral renal agenesis", "17": "Postural tremor", "18": "Neoplasm of the oral cavity", "19": "Abnormal larynx physiology", "20": "Abnormality of primary teeth", "21": "Postaxial polydactyly", "22": "Low frustration tolerance", "23": "Rimmed vacuoles", "24": "Memory impairment", "25": "Intestinal polyp", "26": "Tetraplegia", "27": "Abnormality of the supraorbital ridges", "28": "Muscle fiber atrophy", "29": "Papule", "30": "Knee flexion contracture", "31": "Serositis", "32": "Impaired proprioception", "33": "Motor neuron atrophy", "34": "Neutropenia in presence of anti neutropil antibodies", "35": "Focal segmental glomerulosclerosis", "36": "Limited elbow movement", "37": "Frontotemporal dementia", "38": "Protruding tongue", "39": "Increased intracranial pressure", "40": "Hypoparathyroidism", "41": "Minimal change glomerulonephritis", "42": "Diffuse mesangial sclerosis", "43": "Abnormality of the parathyroid gland", "44": "Delayed cranial suture closure", "45": "Abnormal biliary tract morphology", "46": "Abnormal glomerular mesangium morphology", "47": "Delusions", "48": "Optic nerve hypoplasia", "49": "Mildly elevated creatine kinase"} |