| {"0": "Micromelia", "1": "Slender long bone", "2": "Bilateral sensorineural hearing impairment", "3": "Gonadal neoplasm", "4": "Wide anterior fontanel", "5": "Platyspondyly", "6": "Abnormality of muscle size", "7": "Thin ribs", "8": "Dolichocephaly", "9": "Abnormal metatarsal morphology", "10": "Muscle fibrillation", "11": "Proximal amyotrophy", "12": "Severe muscular hypotonia", "13": "Increased connective tissue", "14": "Abnormality of skeletal muscle fiber size", "15": "Somatic mutation", "16": "Arthralgia", "17": "Metatarsus adductus", "18": "Abnormal enchondral ossification", "19": "Abnormal epiphyseal ossification", "20": "Pain", "21": "Arthritis", "22": "Abnormality of long bone morphology", "23": "Neoplasm of the respiratory system", "24": "Aplasia hypoplasia of the lungs", "25": "Xerostomia", "26": "Underdeveloped supraorbital ridges", "27": "Abnormality of the lymph nodes", "28": "Abnormality of the anterior fontanelle", "29": "Abnormality of pulmonary circulation", "30": "Abnormal epidermal morphology", "31": "Coxa vara", "32": "Limb ataxia", "33": "Dysdiadochokinesis", "34": "Fatigable weakness of bulbar muscles", "35": "Abnormality of the achilles tendon", "36": "Abnormal delivery", "37": "Fatigable weakness of respiratory muscles", "38": "Abnormality of the supraorbital ridges", "39": "Sensorimotor neuropathy", "40": "Abnormal larynx physiology", "41": "Abnormal pleura morphology", "42": "Pathologic fracture", "43": "Fatigable weakness of swallowing muscles", "44": "Increased bone mineral density", "45": "Abnormality of skull ossification", "46": "Generalized amyotrophy", "47": "Abnormality of the musculature of the thigh", "48": "Abnormality of salivation", "49": "Contractures involving the joints of the feet"} |