| {"0": "Abnormality of acid base homeostasis", "1": "Abnormal blood glucose concentration", "2": "Increased serum lactate", "3": "Abnormal circulating carboxylic acid concentration", "4": "Sensorimotor neuropathy", "5": "Abnormality of the cerebrospinal fluid", "6": "Abnormality of the mitochondrion", "7": "Abnormal pyramidal sign", "8": "Hyperreflexia", "9": "Peripheral neuropathy", "10": "Abnormal circulating protein concentration", "11": "Muscle weakness", "12": "Hyporeflexia", "13": "Abnormal glucose homeostasis", "14": "Reduced tendon reflexes", "15": "Functional motor deficit", "16": "Abnormal circulating acetylcarnitine concentration", "17": "Respiratory insufficiency", "18": "Abnormal circulating proteinogenic amino acid concentration", "19": "Abnormal reflex", "20": "Ragged red muscle fibers", "21": "Lactic acidosis", "22": "Brisk reflexes", "23": "Focal t2 hyperintense brainstem lesion", "24": "Abnormal brainstem mri signal intensity", "25": "Abnormal circulating metabolite concentration", "26": "Functional abnormality of the inner ear", "27": "Paroxysmal involuntary eye movements", "28": "Increased serum pyruvate", "29": "Somatic sensory dysfunction", "30": "Abnormal circulating carbohydrate concentration", "31": "Polyneuropathy", "32": "Rimmed vacuoles", "33": "Abnormality of circulating enzyme level", "34": "Babinski sign", "35": "Areflexia of lower limbs", "36": "Abnormal circulating amino acid concentration", "37": "Abnormal mitochondria in muscle tissue", "38": "Xerostomia", "39": "Optic disc pallor", "40": "Motor axonal neuropathy", "41": "Fetal distress", "42": "Abnormality of the peripheral nervous system", "43": "Proximal tubulopathy", "44": "Impaired proprioception", "45": "Abnormal circulating proteinogenic amino acid derivative concentration", "46": "Abnormal circulating pyruvate family amino acid concentration", "47": "Steppage gait", "48": "Abnormality of the achilles tendon", "49": "Increased csf lactate"} |