| {"0": "Cerebral palsy", "1": "Platyspondyly", "2": "Amyotrophic lateral sclerosis", "3": "Upper limb amyotrophy", "4": "Distal upper limb amyotrophy", "5": "Gynecomastia", "6": "Hand muscle weakness", "7": "Xerostomia", "8": "Abnormal thrombosis", "9": "Abnormality of the testis size", "10": "Micromelia", "11": "Fatigable weakness of bulbar muscles", "12": "Abnormality of tibia morphology", "13": "Fatigable weakness of swallowing muscles", "14": "Abnormal anatomic location of the heart", "15": "Neurodegeneration", "16": "Sensory axonal neuropathy", "17": "Abnormality of the odontoid process", "18": "Tremor by anatomical site", "19": "Hypoplasia of the odontoid process", "20": "Femoral bowing", "21": "Abnormality of the hypothalamus pituitary axis", "22": "Abnormal circulating gonadotropin concentration", "23": "Abnormal form of the vertebral bodies", "24": "Axonal degeneration", "25": "Sarcoma", "26": "Recurrent fractures", "27": "Somatic mutation", "28": "Abnormal paranasal sinus morphology", "29": "Abnormal morphology of the musculature of the neck", "30": "Distal lower limb amyotrophy", "31": "Prolonged bleeding time", "32": "Intracranial hemorrhage", "33": "Decreased fertility", "34": "Postaxial polydactyly", "35": "Wormian bones", "36": "Ectrodactyly", "37": "Dicarboxylic aciduria", "38": "Amaurosis fugax", "39": "Omphalocele", "40": "Broad eyebrow", "41": "Decreased testicular size", "42": "Cone shaped epiphysis", "43": "Skin ulcer", "44": "Fatigable weakness of respiratory muscles", "45": "Coxa vara", "46": "Enamel hypoplasia", "47": "Fibrous tissue neoplasm", "48": "Abnormality of the pituitary gland", "49": "Enlarged thorax"} |