| {"0": "Mental deterioration", "1": "Corneal opacity", "2": "Dementia", "3": "Bulbar signs", "4": "Abnormal circulating cholesterol concentration", "5": "Abnormal retinal artery morphology", "6": "Cognitive impairment", "7": "Vascular skin abnormality", "8": "Delusions", "9": "Abnormality of the biliary system", "10": "Abnormality of head blood vessel", "11": "Biliary tract abnormality", "12": "Abnormal tissue metabolite concentration", "13": "Ragged red muscle fibers", "14": "Polyneuropathy", "15": "Abnormal vertebral morphology", "16": "Abnormal circulating lipid concentration", "17": "Ascites", "18": "Disproportionate short stature", "19": "Bruising susceptibility", "20": "Duplication involving bones of the feet", "21": "Abnormal biliary tract morphology", "22": "Hepatic failure", "23": "Scotoma", "24": "Abnormal retinal vascular morphology", "25": "Postural tremor", "26": "Abnormal vascular physiology", "27": "Action tremor", "28": "Hand polydactyly", "29": "Periventricular white matter hyperintensities", "30": "Abnormality of extrapyramidal motor function", "31": "Abnormal endocardium morphology", "32": "Avascular necrosis", "33": "Loss of speech", "34": "Schizophrenia", "35": "Peripheral demyelination", "36": "Subcutaneous hemorrhage", "37": "Increased bone mineral density", "38": "Central scotoma", "39": "Progressive spastic quadriplegia", "40": "Progressive spasticity", "41": "Clumsiness", "42": "Abnormality of glycolipid metabolism", "43": "Progressive visual loss", "44": "Abnormality of corneal stroma", "45": "Depression", "46": "Abnormal csf protein level", "47": "Disproportionate short limb short stature", "48": "Cherry red spot of the macula", "49": "Ventricular preexcitation"} |