| {"0": "Skin vesicle", "1": "Amyotrophic lateral sclerosis", "2": "Narrow palpebral fissure", "3": "Abnormal shape of the palpebral fissure", "4": "Fetal ultrasound soft marker", "5": "Fatigable weakness of respiratory muscles", "6": "Multiple cafe au lait spots", "7": "Thickened nuchal skin fold", "8": "Periventricular leukomalacia", "9": "Prominent metopic ridge", "10": "Abnormal epidermal morphology", "11": "Abnormal renal collecting system morphology", "12": "Absent hair", "13": "Fatigable weakness of swallowing muscles", "14": "Abnormality of the intervertebral disk", "15": "Flat occiput", "16": "Distal upper limb amyotrophy", "17": "Aplasia hypoplasia of the ovary", "18": "Hyperpituitarism", "19": "Underdeveloped supraorbital ridges", "20": "Dystrophic fingernails", "21": "Abnormalities of placenta or umbilical cord", "22": "Primary adrenal insufficiency", "23": "Abnormal circulating fatty acid concentration", "24": "Exertional dyspnea", "25": "Neoplasm of the stomach", "26": "Feeding difficulties", "27": "Abnormality of the metopic suture", "28": "Epiphyseal stippling", "29": "Xerostomia", "30": "Thin ribs", "31": "Muscle weakness", "32": "Gastrointestinal obstruction", "33": "Oculomotor apraxia", "34": "Disproportionate short limb short stature", "35": "Abnormal blistering of the skin", "36": "Pancreatitis", "37": "Spastic paraparesis", "38": "Cubitus valgus", "39": "Agnosia", "40": "Dicarboxylic aciduria", "41": "Upper limb amyotrophy", "42": "Hyposmia", "43": "Asymmetric growth", "44": "Erythema", "45": "Profound global developmental delay", "46": "Abnormal pulmonary thoracic imaging finding", "47": "High pitched voice", "48": "Organic aciduria", "49": "Fatigable weakness of bulbar muscles"} |