{"0": "Cognitive impairment", "1": "Mental deterioration", "2": "Corneal opacity", "3": "Dementia", "4": "Abnormal retinal artery morphology", "5": "Abnormal circulating cholesterol concentration", "6": "Abnormality of head blood vessel", "7": "Disproportionate short stature", "8": "Abnormality of extrapyramidal motor function", "9": "Optic disc pallor", "10": "Delusions", "11": "Abnormal circulating lipid concentration", "12": "Action tremor", "13": "Biliary tract abnormality", "14": "Horizontal nystagmus", "15": "Abnormal biliary tract morphology", "16": "Loss of speech", "17": "Splenomegaly", "18": "Rigidity", "19": "Hallucinations", "20": "Abnormality of the biliary system", "21": "Progressive neurologic deterioration", "22": "Cherry red spot of the macula", "23": "Clumsiness", "24": "Abnormality of femur morphology", "25": "Psychomotor deterioration", "26": "Abnormality of epiphysis morphology", "27": "Abnormal retinal morphology", "28": "Disproportionate short limb short stature", "29": "Abnormal glycosylation", "30": "Hypokinesia", "31": "Poor head control", "32": "Abnormal retinal vascular morphology", "33": "Abnormal metatarsal morphology", "34": "Muscle abnormality related to mitochondrial dysfunction", "35": "Abnormal tissue metabolite concentration", "36": "Abnormal social behavior", "37": "Bulbar signs", "38": "Arthritis", "39": "Emg chronic denervation signs", "40": "Central scotoma", "41": "Dysostosis multiplex", "42": "Unilateral renal agenesis", "43": "Abnormality of the vasculature of the eye", "44": "Schizophrenia", "45": "Decreased activity of mitochondrial complex i", "46": "Abnormality of coordination", "47": "Ascites", "48": "Abnormality of the spleen", "49": "Optic neuropathy"}