{"0": "Abnormal muscle fiber morphology", "1": "Wormian bones", "2": "Muscle abnormality related to mitochondrial dysfunction", "3": "Abnormal activity of mitochondrial respiratory chain", "4": "Abnormal mitochondria in muscle tissue", "5": "Horizontal nystagmus", "6": "Decreased activity of mitochondrial complex i", "7": "Mitochondrial myopathy", "8": "Platyspondyly", "9": "Impaired proprioception", "10": "Abnormal circulating lipid concentration", "11": "Increased csf lactate", "12": "Disproportionate short limb short stature", "13": "Abnormal csf protein level", "14": "Abnormal csf metabolite level", "15": "Limb ataxia", "16": "Abnormal brainstem mri signal intensity", "17": "Disproportionate short stature", "18": "Abnormal glycosylation", "19": "Clumsiness", "20": "Areflexia of lower limbs", "21": "Abnormality of the achilles tendon", "22": "Ragged red muscle fibers", "23": "Focal t2 hyperintense brainstem lesion", "24": "Impaired vibratory sensation", "25": "Abnormality of alkaline phosphatase level", "26": "Increased cerebral lipofuscin", "27": "Delayed cranial suture closure", "28": "Hypocholesterolemia", "29": "Decreased activity of mitochondrial complex iv", "30": "Achilles tendon contracture", "31": "Abnormal arterial physiology", "32": "Abnormality of skull ossification", "33": "Slowly progressive", "34": "Abnormality of the mitochondrion", "35": "Vertebral compression fracture", "36": "Hyperintensity of cerebral white matter on mri", "37": "Abnormal protein glycosylation", "38": "Abnormality of prothrombin", "39": "Paroxysmal involuntary eye movements", "40": "Sensorimotor neuropathy", "41": "Cystic liver disease", "42": "Decreased absent ankle reflexes", "43": "Abnormal pericardium morphology", "44": "Abnormal basal ganglia mri signal intensity", "45": "Action tremor", "46": "Recurrent fractures", "47": "Paresthesia", "48": "Proximal tubulopathy", "49": "Aplasia hypoplasia involving the vertebral column"}