| {"0": "Abnormal circulating lipid concentration", "1": "Mental deterioration", "2": "Postural tremor", "3": "Central scotoma", "4": "Bulbar signs", "5": "Abnormal retinal artery morphology", "6": "Clumsiness", "7": "Scotoma", "8": "Myoclonus", "9": "Ragged red muscle fibers", "10": "Psychomotor deterioration", "11": "Avascular necrosis", "12": "Abnormal epiphyseal ossification", "13": "Increased bone mineral density", "14": "Abnormality of head blood vessel", "15": "Abnormal tissue metabolite concentration", "16": "Fever", "17": "Horizontal nystagmus", "18": "Muscle stiffness", "19": "Morphological abnormality of the pyramidal tract", "20": "Abnormal biliary tract morphology", "21": "Rhizomelia", "22": "Blindness", "23": "Progressive visual loss", "24": "Variable expressivity", "25": "Disproportionate short stature", "26": "Progressive neurologic deterioration", "27": "Hypocholesterolemia", "28": "Disproportionate short limb short stature", "29": "Polyneuropathy", "30": "Dyspnea", "31": "Optic disc pallor", "32": "Abnormal conjunctiva morphology", "33": "Abnormality of the mitochondrion", "34": "Peripheral demyelination", "35": "Dementia", "36": "Abnormal circulating cholesterol concentration", "37": "Anencephaly", "38": "Splenomegaly", "39": "Respiratory distress", "40": "Biliary tract abnormality", "41": "Epiphyseal stippling", "42": "Cherry red spot of the macula", "43": "Ascites", "44": "Ambiguous genitalia", "45": "Abnormality of the vasculature of the eye", "46": "Visual loss", "47": "Abnormality of temperature regulation", "48": "Corneal opacity", "49": "Action tremor"} |