| {"0": "Mental deterioration", "1": "Dementia", "2": "Cognitive impairment", "3": "Abnormal circulating lipid concentration", "4": "Abnormality of hepatobiliary system physiology", "5": "Abnormal circulating cholesterol concentration", "6": "Abnormal retinal artery morphology", "7": "Abnormality of head blood vessel", "8": "Hepatic failure", "9": "Bulbar signs", "10": "Vascular skin abnormality", "11": "Corneal opacity", "12": "Abnormality of extrapyramidal motor function", "13": "Abnormal retinal vascular morphology", "14": "Action tremor", "15": "Reduced visual acuity", "16": "Abnormality of corneal stroma", "17": "Abnormal tissue metabolite concentration", "18": "Myoclonus", "19": "Cherry red spot of the macula", "20": "Ectopic calcification", "21": "Dysphagia", "22": "Scotoma", "23": "Parkinsonism", "24": "Postural tremor", "25": "Myoclonic seizure", "26": "Horizontal nystagmus", "27": "Disproportionate short stature", "28": "Decreased activity of mitochondrial complex i", "29": "Abnormal epiphyseal ossification", "30": "Morphological abnormality of the pyramidal tract", "31": "Airway obstruction", "32": "Respiratory distress", "33": "Generalized myoclonic seizure", "34": "Central scotoma", "35": "Abnormal autonomic nervous system physiology", "36": "Abnormal enchondral ossification", "37": "Abnormality of epiphysis morphology", "38": "Muscle abnormality related to mitochondrial dysfunction", "39": "Phenotypic variability", "40": "Primary adrenal insufficiency", "41": "Blindness", "42": "Arteriosclerosis", "43": "Ventricular hypertrophy", "44": "Abnormal vascular physiology", "45": "Cachexia", "46": "Cutis laxa", "47": "Epiphyseal stippling", "48": "Abnormal muscle fiber morphology", "49": "Abnormal activity of mitochondrial respiratory chain"} |