| {"0": "Abnormal vertebral morphology", "1": "Vascular skin abnormality", "2": "Abnormality of bone mineral density", "3": "Cognitive impairment", "4": "Abnormality of the spleen", "5": "Dysostosis multiplex", "6": "Reduced visual acuity", "7": "Abnormal bone structure", "8": "Cherry red spot of the macula", "9": "Abnormal sternum morphology", "10": "Bulbar signs", "11": "Ventricular preexcitation", "12": "Osteoarthritis", "13": "Abnormality of the lymphatic system", "14": "Hepatomegaly", "15": "Symptomatic seizures", "16": "Abnormality of upper limb joint", "17": "Mental deterioration", "18": "Pain", "19": "Hypertrophic cardiomyopathy", "20": "Progressive external ophthalmoplegia", "21": "Abnormal cellular phenotype", "22": "Zonular cataract", "23": "Posteriorly rotated ears", "24": "Abnormality of skull ossification", "25": "Abnormal csf protein level", "26": "Abnormality of the achilles tendon", "27": "Abnormal myocardium morphology", "28": "Shoulder girdle muscle weakness", "29": "Abnormality of pelvic girdle bone morphology", "30": "Fluctuations in consciousness", "31": "Achilles tendon contracture", "32": "Central scotoma", "33": "Subcutaneous nodule", "34": "Rhizomelia", "35": "Aplasia hypoplasia involving the vertebral column", "36": "Hypolipoproteinemia", "37": "Pace of progression", "38": "Hypocholesterolemia", "39": "Dysdiadochokinesis", "40": "Abnormal tissue metabolite concentration", "41": "Abnormal retinal artery morphology", "42": "Hemivertebrae", "43": "Elevated hepatic transaminase", "44": "Proximal amyotrophy", "45": "Abnormal circulating protein concentration", "46": "Abnormal lower limb bone morphology", "47": "Mortality aging", "48": "Splenomegaly", "49": "Macrovesicular hepatic steatosis"} |