{"0": "Abnormal retinal artery morphology", "1": "Abnormality of head blood vessel", "2": "Cherry red spot of the macula", "3": "Abnormal tissue metabolite concentration", "4": "Splenomegaly", "5": "Biliary tract abnormality", "6": "Abnormal biliary tract morphology", "7": "Mental deterioration", "8": "Posterior embryotoxon", "9": "Cns demyelination", "10": "Central scotoma", "11": "Polyneuropathy", "12": "Morphological abnormality of the pyramidal tract", "13": "Abnormality of the tongue", "14": "Abnormal epiphyseal ossification", "15": "Young adult onset", "16": "Abnormal auditory evoked potentials", "17": "Myoclonus", "18": "Abnormal vertebral morphology", "19": "Horizontal nystagmus", "20": "Abnormality of hepatobiliary system physiology", "21": "Postural tremor", "22": "Abnormal circulating lipid concentration", "23": "Disproportionate short stature", "24": "Clumsiness", "25": "Corneal opacity", "26": "Sclerocornea", "27": "Epiphyseal stippling", "28": "Blindness", "29": "Microdontia", "30": "Dementia", "31": "Metatarsus adductus", "32": "Scotoma", "33": "Variable expressivity", "34": "Ragged red muscle fibers", "35": "Increased bone mineral density", "36": "Lower limb spasticity", "37": "Nephrotic syndrome", "38": "Phenotypic variability", "39": "Airway obstruction", "40": "Abnormal visual electrophysiology", "41": "Duplication involving bones of the feet", "42": "Bulbar signs", "43": "Abnormality of the spleen", "44": "Disproportionate short limb short stature", "45": "Underdeveloped supraorbital ridges", "46": "Abnormal form of the vertebral bodies", "47": "Abnormal chorioretinal morphology", "48": "Abnormality of the distal phalanges of the toes", "49": "Sensorimotor neuropathy"}