| {"0": "Dysostosis multiplex", "1": "Cherry red spot of the macula", "2": "Postaxial foot polydactyly", "3": "Abnormality of the 5th toe", "4": "Osteoarthritis", "5": "Neuronal loss in central nervous system", "6": "Increased ldl cholesterol concentration", "7": "Focal white matter lesions", "8": "Abnormal csf protein level", "9": "Progressive external ophthalmoplegia", "10": "Epiphyseal stippling", "11": "Abnormal epiphyseal ossification", "12": "Achilles tendon contracture", "13": "Cerebral inclusion bodies", "14": "Hemivertebrae", "15": "Hyperlipoproteinemia", "16": "Erythroderma", "17": "Abnormal atrioventricular conduction", "18": "Abnormal tissue metabolite concentration", "19": "Abnormal ldl cholesterol concentration", "20": "Abnormal pericardium morphology", "21": "Macular degeneration", "22": "Abnormal retinal artery morphology", "23": "Abnormality of corneal stroma", "24": "Cytochrome c oxidase negative muscle fibers", "25": "Abnormal endocardium morphology", "26": "Unusual infection by anatomical site", "27": "Titubation", "28": "Abnormality of lipoprotein cholesterol concentration", "29": "Ragged red muscle fibers", "30": "Polyneuropathy", "31": "Abnormality of head blood vessel", "32": "Clumsiness", "33": "Aplasia hypoplasia involving the femoral head and neck", "34": "Protruding tongue", "35": "Supranuclear gaze palsy", "36": "Thoracic kyphosis", "37": "Periventricular heterotopia", "38": "Amyotrophic lateral sclerosis", "39": "Abnormal hair laboratory examination", "40": "Arteriosclerosis", "41": "Entropion", "42": "Diffuse white matter abnormalities", "43": "Hypercholesterolemia", "44": "Hypokinesia", "45": "Aspiration", "46": "Adipose tissue loss", "47": "Muscle stiffness", "48": "Neck muscle weakness", "49": "Hypoplastic labia majora"} |