| {"0": "Platyspondyly", "1": "Abnormal larynx physiology", "2": "Micromelia", "3": "Cerebral palsy", "4": "Fatigable weakness of respiratory muscles", "5": "Recurrent fractures", "6": "Cardiac conduction abnormality", "7": "Heart block", "8": "Fatigable weakness of swallowing muscles", "9": "Bilateral sensorineural hearing impairment", "10": "Fatigable weakness of bulbar muscles", "11": "Ventricular hypertrophy", "12": "Intellectual disability progressive", "13": "Xerostomia", "14": "Neoplasm of the pituitary gland", "15": "Amyotrophic lateral sclerosis", "16": "Echolalia", "17": "Neurodegeneration", "18": "Demyelinating peripheral neuropathy", "19": "Generalized muscle weakness", "20": "Paraparesis", "21": "Motor neuron atrophy", "22": "Abnormal astrocyte morphology", "23": "Abnormal atrioventricular conduction", "24": "Proximal amyotrophy", "25": "Abnormal urine ph", "26": "Ventricular preexcitation", "27": "External ophthalmoplegia", "28": "Abnormal glial cell morphology", "29": "Ventricular tachycardia", "30": "Abnormal synaptic transmission at the neuromuscular junction", "31": "Left ventricular hypertrophy", "32": "Abnormality of lower limb epiphysis morphology", "33": "Abnormality of the parathyroid gland", "34": "Arthrogryposis multiplex congenita", "35": "Hypoplastic female external genitalia", "36": "Decreased facial expression", "37": "Paraplegia paraparesis", "38": "Muscle fibrillation", "39": "Ventricular arrhythmia", "40": "Thin ribs", "41": "Falls", "42": "Trigonocephaly", "43": "Pointed chin", "44": "Abnormal labia majora morphology", "45": "Hypoplastic labia majora", "46": "Abnormality of the pituitary gland", "47": "Mutism", "48": "Abnormality of the hypothalamus pituitary axis", "49": "Sensorimotor neuropathy"} |