{"0": "Abnormal biliary tract morphology", "1": "Biliary tract abnormality", "2": "Clumsiness", "3": "Dementia", "4": "Mental deterioration", "5": "Abnormal muscle fiber morphology", "6": "Abnormality of femur morphology", "7": "Corneal opacity", "8": "Abnormal retinal artery morphology", "9": "Ragged red muscle fibers", "10": "Global brain atrophy", "11": "Bulbar signs", "12": "Toe walking", "13": "Peripheral demyelination", "14": "Abnormality of hepatobiliary system physiology", "15": "Proximal muscle weakness", "16": "Hypocholesterolemia", "17": "Hyperintensity of cerebral white matter on mri", "18": "Progressive psychomotor deterioration", "19": "Cherry red spot of the macula", "20": "Poor head control", "21": "Supranuclear gaze palsy", "22": "Respiratory distress", "23": "Cns demyelination", "24": "Sensorimotor neuropathy", "25": "Ascites", "26": "Abnormal vascular physiology", "27": "Abnormal tissue metabolite concentration", "28": "Left ventricular hypertrophy", "29": "Horizontal nystagmus", "30": "Pathologic fracture", "31": "Abnormal pericardium morphology", "32": "Abnormality of visual evoked potentials", "33": "Abnormality of head blood vessel", "34": "Abnormal circulating lipid concentration", "35": "Abnormal peripheral nervous system physiology", "36": "Impaired proprioception", "37": "Young adult onset", "38": "Abnormal circulating cholesterol concentration", "39": "Disproportionate short stature", "40": "Abnormality of the larynx", "41": "Episodic vomiting", "42": "Aortic valve stenosis", "43": "Hypopigmented skin patches", "44": "Hepatic failure", "45": "Scotoma", "46": "Optic disc pallor", "47": "Mucosal telangiectasiae", "48": "Elevated pulmonary artery pressure", "49": "Loss of speech"}