{"0": "Dementia", "1": "Action tremor", "2": "Respiratory distress", "3": "Central scotoma", "4": "Myoclonic seizure", "5": "Respiratory arrest", "6": "Hepatic failure", "7": "Rhizomelia", "8": "Abnormal circulating lipid concentration", "9": "Episodic vomiting", "10": "Scotoma", "11": "Bulbar signs", "12": "Respiratory failure", "13": "Abnormality of epiphysis morphology", "14": "Horizontal nystagmus", "15": "Abnormality of the ribs", "16": "Cherry red spot of the macula", "17": "Adult onset", "18": "Abnormality of glycolipid metabolism", "19": "Contractures of the joints of the upper limbs", "20": "Progressive psychomotor deterioration", "21": "Abnormality of the alveolar ridges", "22": "Beaking of vertebral bodies", "23": "Zonular cataract", "24": "Capillary hemangioma", "25": "Neuronal loss in central nervous system", "26": "Disproportionate short stature", "27": "Abnormality of femur morphology", "28": "Aplasia hypoplasia of the skin", "29": "Mental deterioration", "30": "Dilated cardiomyopathy", "31": "Toe walking", "32": "Abnormal muscle fiber morphology", "33": "Corneal opacity", "34": "Hypocholesterolemia", "35": "Increased susceptibility to fractures", "36": "Abnormal atrioventricular conduction", "37": "Abnormal visual electrophysiology", "38": "Abnormal retinal vascular morphology", "39": "Proportionate short stature", "40": "Abnormal auditory evoked potentials", "41": "Abnormal csf protein level", "42": "Psychomotor deterioration", "43": "Aplasia hypoplasia involving the vertebral column", "44": "Progressive neurologic deterioration", "45": "Proximal upper limb amyotrophy", "46": "Abnormality of the musculature of the upper arm", "47": "Abnormality of the mitochondrion", "48": "Postural tremor", "49": "Disproportionate short limb short stature"}