{"0": "Cognitive impairment", "1": "Mental deterioration", "2": "Abnormality of the cerebrospinal fluid", "3": "Reduced visual acuity", "4": "Vascular skin abnormality", "5": "Weakness due to upper motor neuron dysfunction", "6": "Cerebellar atrophy", "7": "Phenotypic variability", "8": "Central scotoma", "9": "Cherry red spot of the macula", "10": "Osteoarthritis", "11": "Abnormal retinal morphology", "12": "Abnormality of the biliary system", "13": "Mucosal telangiectasiae", "14": "Dysphagia", "15": "Dysarthria", "16": "Neuronal loss in central nervous system", "17": "Psychomotor deterioration", "18": "Postural tremor", "19": "Primary adrenal insufficiency", "20": "Abnormality of central nervous system electrophysiology", "21": "Hemiparesis", "22": "Scotoma", "23": "Muscle stiffness", "24": "Abnormal retinal artery morphology", "25": "Optic neuropathy", "26": "Abnormality of corneal stroma", "27": "Reduced tendon reflexes", "28": "Airway obstruction", "29": "Hypertrophic cardiomyopathy", "30": "Abnormal myocardium morphology", "31": "Pain", "32": "Retinopathy", "33": "Focal t2 hyperintense brainstem lesion", "34": "Ventriculomegaly", "35": "Abnormal cortical gyration", "36": "Hepatomegaly", "37": "Abnormal sternum morphology", "38": "Abnormal lower limb bone morphology", "39": "Abnormality of head blood vessel", "40": "Abnormality of the spleen", "41": "Abnormal renal tubule morphology", "42": "Optic atrophy", "43": "Functional motor deficit", "44": "Decreased absent ankle reflexes", "45": "Abnormal brainstem mri signal intensity", "46": "Variable expressivity", "47": "Abnormal mitochondria in muscle tissue", "48": "Abnormal pyramidal sign", "49": "Abnormality of upper limb joint"}