| {"0": "Abnormal activity of mitochondrial respiratory chain", "1": "Increased csf lactate", "2": "Abnormal csf metabolite level", "3": "Abnormality of the mitochondrion", "4": "Muscle abnormality related to mitochondrial dysfunction", "5": "Optic disc pallor", "6": "Decreased activity of mitochondrial complex i", "7": "Ragged red muscle fibers", "8": "Respiratory distress", "9": "Peripheral demyelination", "10": "Optic neuropathy", "11": "Impaired social interactions", "12": "Increased serum lactate", "13": "Abnormal social behavior", "14": "Poor eye contact", "15": "Horizontal nystagmus", "16": "Pigmentary retinopathy", "17": "External ophthalmoplegia", "18": "Mitochondrial myopathy", "19": "Abnormal metabolic brain imaging by mrs", "20": "Abnormal mitochondria in muscle tissue", "21": "Abnormality of retinal pigmentation", "22": "Brain imaging abnormality", "23": "Postural tremor", "24": "Bulbar signs", "25": "Scotoma", "26": "Sensorimotor neuropathy", "27": "Central scotoma", "28": "Poor head control", "29": "Episodic vomiting", "30": "Visual field defect", "31": "Ventricular hypertrophy", "32": "Abnormal brainstem mri signal intensity", "33": "Variable expressivity", "34": "Proximal tubulopathy", "35": "Specific learning disability", "36": "Abnormal peripheral myelination", "37": "Focal t2 hyperintense brainstem lesion", "38": "Abnormality of the cerebrospinal fluid", "39": "Abnormal muscle fiber morphology", "40": "Abnormal brain lactate level by mrs", "41": "Phenotypic variability", "42": "Blindness", "43": "Abnormal protein glycosylation", "44": "Morphological abnormality of the pyramidal tract", "45": "Biliary tract abnormality", "46": "Bradycardia", "47": "Abnormality of fontanelles", "48": "Deep palmar crease", "49": "Abnormal biliary tract morphology"} |