| {"0": "Abnormal activity of mitochondrial respiratory chain", "1": "Abnormality of fontanelles", "2": "Abnormal visual electrophysiology", "3": "Optic disc pallor", "4": "Hallucinations", "5": "Corneal opacity", "6": "Increased csf lactate", "7": "Dementia", "8": "Impaired social interactions", "9": "Abnormal csf metabolite level", "10": "Ectopic calcification", "11": "Abnormal social behavior", "12": "Poor head control", "13": "Lissencephaly", "14": "Cherry red spot of the macula", "15": "Progressive psychomotor deterioration", "16": "Abnormal peripheral nervous system physiology", "17": "Bulbar signs", "18": "Respiratory distress", "19": "Abnormally lax or hyperextensible skin", "20": "Cns demyelination", "21": "Muscle abnormality related to mitochondrial dysfunction", "22": "Decreased activity of mitochondrial complex i", "23": "Delusions", "24": "Progressive neurologic deterioration", "25": "Decreased activity of mitochondrial complex iv", "26": "Abnormal vascular physiology", "27": "Wide anterior fontanel", "28": "Delayed cranial suture closure", "29": "Abnormality of visual evoked potentials", "30": "Meningitis", "31": "Hypopigmentation of the skin", "32": "Abnormal tissue metabolite concentration", "33": "Abnormal epiphyseal ossification", "34": "Young adult onset", "35": "Abnormality of the mitochondrion", "36": "Clumsiness", "37": "Abnormal biliary tract morphology", "38": "Proximal tubulopathy", "39": "Abnormal circulating lipid concentration", "40": "Poor eye contact", "41": "Death in infancy", "42": "Biliary tract abnormality", "43": "Abnormal pericardium morphology", "44": "Abnormality of peripheral nerves", "45": "Disproportionate short stature", "46": "Dysostosis multiplex", "47": "Rhizomelia", "48": "Elevated pulmonary artery pressure", "49": "3 methylglutaconic aciduria"} |