| {"0": "Retinopathy", "1": "Corneal opacity", "2": "Biliary tract abnormality", "3": "Abnormality of femur morphology", "4": "Disproportionate short stature", "5": "Ascites", "6": "Abnormal retinal artery morphology", "7": "Abnormal circulating cholesterol concentration", "8": "Increased bone mineral density", "9": "Abnormal circulating lipid concentration", "10": "Abnormal biliary tract morphology", "11": "Bulbar signs", "12": "Dementia", "13": "Rhizomelia", "14": "Mental deterioration", "15": "Disproportionate short limb short stature", "16": "Central scotoma", "17": "Arteriosclerosis", "18": "Hypocholesterolemia", "19": "Cherry red spot of the macula", "20": "Abnormal enchondral ossification", "21": "Scotoma", "22": "Postural tremor", "23": "Variable expressivity", "24": "Fluctuations in consciousness", "25": "Abnormality of corneal stroma", "26": "Lower limb spasticity", "27": "Abnormal macular morphology", "28": "Rigidity", "29": "Abnormality of head blood vessel", "30": "Hand polydactyly", "31": "Aplasia hypoplasia involving the vertebral column", "32": "Muscle abnormality related to mitochondrial dysfunction", "33": "Abnormal macrophage morphology", "34": "Dysostosis multiplex", "35": "Abnormal basal ganglia mri signal intensity", "36": "Abnormal epiphyseal ossification", "37": "Abnormal corneal epithelium morphology", "38": "Action tremor", "39": "Sensorimotor neuropathy", "40": "Abnormal oral mucosa morphology", "41": "Abnormality of prothrombin", "42": "Abnormality of the vasculature of the eye", "43": "Abnormality of the ribs", "44": "Chorea", "45": "Progressive neurologic deterioration", "46": "Clumsiness", "47": "Oligosacchariduria", "48": "Abnormal metabolic brain imaging by mrs", "49": "Diffuse white matter abnormalities"} |