| {"0": "Dementia", "1": "Abnormal vascular physiology", "2": "Mental deterioration", "3": "Corneal opacity", "4": "Abnormality of femur morphology", "5": "Optic disc pallor", "6": "Abnormal peripheral nervous system physiology", "7": "Abnormal circulating lipid concentration", "8": "Variable expressivity", "9": "Cherry red spot of the macula", "10": "Abnormality of glycolipid metabolism", "11": "Osteoarthritis", "12": "Progressive psychomotor deterioration", "13": "Abnormality of extrapyramidal motor function", "14": "Action tremor", "15": "Neurofibrillary tangles", "16": "Urinary glycosaminoglycan excretion", "17": "Splenomegaly", "18": "Abnormal activity of mitochondrial respiratory chain", "19": "Ectopic calcification", "20": "Abnormality of the pharynx", "21": "Paralysis", "22": "Hepatic failure", "23": "Visual loss", "24": "Abnormality of the vasculature of the eye", "25": "Very long chain fatty acid accumulation", "26": "Bulbar signs", "27": "Myoclonic seizure", "28": "Dysostosis multiplex", "29": "Abnormality of peripheral nerves", "30": "Abnormal retinal vascular morphology", "31": "Abnormal muscle fiber morphology", "32": "Abnormal retinal artery morphology", "33": "Abnormal csf protein level", "34": "Abnormal urine protein level", "35": "Arthritis", "36": "Hallucinations", "37": "Respiratory distress", "38": "Abnormal tongue morphology", "39": "Abnormal nephron morphology", "40": "Joint stiffness", "41": "Central scotoma", "42": "Young adult onset", "43": "Increased csf lactate", "44": "Abnormality of the ribs", "45": "Impaired social interactions", "46": "Phenotypic variability", "47": "Abnormal renal cortex morphology", "48": "Biliary tract abnormality", "49": "Abnormality of epiphysis morphology"} |