| {"0": "Subcutaneous nodule", "1": "Abnormality of corneal stroma", "2": "Skin nodule", "3": "Abnormal epidermal morphology", "4": "Osteoarthritis", "5": "Generalized joint laxity", "6": "Ventricular tachycardia", "7": "Distal lower limb amyotrophy", "8": "Abnormality of the gastric mucosa", "9": "Abnormal endocardium morphology", "10": "Abnormal iliac wing morphology", "11": "Coxa vara", "12": "Retinal detachment", "13": "Temporal pattern", "14": "Micromelia", "15": "Bilateral single transverse palmar creases", "16": "Supernumerary spleens", "17": "Abnormal morphology of the radius", "18": "Shuffling gait", "19": "Slender long bone", "20": "Thin ribs", "21": "Insidious onset", "22": "Aplasia hypoplasia of the femur", "23": "Airway obstruction", "24": "Cardiac arrest", "25": "Multiple joint contractures", "26": "Short chin", "27": "Abnormal blistering of the skin", "28": "Bulbar signs", "29": "Abnormality on pulmonary function testing", "30": "Disproportionate short stature", "31": "Flared metaphysis", "32": "Abnormality of the 1st metacarpal", "33": "Underdeveloped supraorbital ridges", "34": "Abnormal circulating fatty acid concentration", "35": "Tachycardia", "36": "Cachexia", "37": "Short 1st metacarpal", "38": "Metaphyseal widening", "39": "Progressive spasticity", "40": "Insulin resistance", "41": "Cardiomegaly", "42": "Abnormal pancreas morphology", "43": "Cherry red spot of the macula", "44": "Sudden death", "45": "Lower limb amyotrophy", "46": "Muscle weakness", "47": "Postaxial hand polydactyly", "48": "Fibrous tissue neoplasm", "49": "Curly eyelashes"} |