| {"0": "Joint swelling", "1": "Decreased activity of mitochondrial complex i", "2": "Nephrolithiasis", "3": "Optic disc pallor", "4": "Abnormal activity of mitochondrial respiratory chain", "5": "Poor head control", "6": "Proximal tubulopathy", "7": "Developmental cataract", "8": "Coronal craniosynostosis", "9": "Abnormality of the gallbladder", "10": "Abnormality of exocrine pancreas physiology", "11": "Abnormal gallbladder morphology", "12": "Cns demyelination", "13": "Young adult onset", "14": "Sparse lateral eyebrow", "15": "Arthralgia", "16": "Bicornuate uterus", "17": "Increased csf lactate", "18": "Visual field defect", "19": "Skin dimple", "20": "Abnormal mitochondria in muscle tissue", "21": "Abnormal talus morphology", "22": "Abnormal csf metabolite level", "23": "Abnormal lung development", "24": "Pulmonary hypoplasia", "25": "Decreased activity of mitochondrial complex iv", "26": "Hypoparathyroidism", "27": "Aplasia hypoplasia of the lungs", "28": "Paroxysmal involuntary eye movements", "29": "Muscle abnormality related to mitochondrial dysfunction", "30": "Expressive language delay", "31": "Focal t2 hyperintense brainstem lesion", "32": "Renal tubular dysfunction", "33": "Abnormal muscle fiber morphology", "34": "Optic neuropathy", "35": "Mitochondrial myopathy", "36": "Abnormal social behavior", "37": "Abnormal brainstem mri signal intensity", "38": "Glucose intolerance", "39": "Ovarian cyst", "40": "Spina bifida", "41": "Laryngomalacia", "42": "Prematurely aged appearance", "43": "Abnormality of the ureter", "44": "Dental crowding", "45": "Foot dorsiflexor weakness", "46": "Abnormal motor nerve conduction velocity", "47": "Abnormal nerve conduction velocity", "48": "Brittle hair", "49": "Poor eye contact"} |