| {"0": "Abnormal activity of mitochondrial respiratory chain", "1": "Optic disc pallor", "2": "Impaired social interactions", "3": "Abnormal vascular physiology", "4": "Visual loss", "5": "Poor head control", "6": "Action tremor", "7": "Abnormal social behavior", "8": "Increased csf lactate", "9": "Blindness", "10": "Dementia", "11": "Abnormal csf metabolite level", "12": "Osteoarthritis", "13": "Abnormal circulating lipid concentration", "14": "Mental deterioration", "15": "Abnormality of the mitochondrion", "16": "Poor eye contact", "17": "Corneal opacity", "18": "Bulbar signs", "19": "Hypocholesterolemia", "20": "Myoclonus", "21": "Hallucinations", "22": "Abnormal visual electrophysiology", "23": "Decreased activity of mitochondrial complex i", "24": "Juvenile onset", "25": "Hypoketotic hypoglycemia", "26": "Alkalosis", "27": "Progressive psychomotor deterioration", "28": "Emotional lability", "29": "Abnormal urine protein level", "30": "Dysostosis multiplex", "31": "Paralysis", "32": "Delusions", "33": "Leukodystrophy", "34": "Secondary microcephaly", "35": "Scotoma", "36": "Respiratory distress", "37": "Abnormal oral mucosa morphology", "38": "Muscle abnormality related to mitochondrial dysfunction", "39": "Dysmetria", "40": "Myoclonic seizure", "41": "Abnormal heart valve morphology", "42": "Elevated pulmonary artery pressure", "43": "Abnormality of pulmonary circulation", "44": "Episodic vomiting", "45": "Abnormal renal cortex morphology", "46": "Cns demyelination", "47": "Focal t2 hyperintense brainstem lesion", "48": "Abnormal biliary tract morphology", "49": "Proximal tubulopathy"} |