| {"0": "Increased serum lactate", "1": "Abnormality of acid base homeostasis", "2": "Abnormality of the mitochondrion", "3": "Abnormal cellular phenotype", "4": "Abnormality of coordination", "5": "Hypertrophic cardiomyopathy", "6": "Abnormality of the optic nerve", "7": "Abnormal myocardium morphology", "8": "Abnormality of the cerebrospinal fluid", "9": "Muscle weakness", "10": "Glucose intolerance", "11": "Encephalopathy", "12": "Abnormal retinal morphology", "13": "Optic atrophy", "14": "Abnormal involuntary eye movements", "15": "Functional motor deficit", "16": "Reduced visual acuity", "17": "Weakness due to upper motor neuron dysfunction", "18": "Hyperreflexia", "19": "Feeding difficulties", "20": "Respiratory insufficiency", "21": "Abnormal abdomen morphology", "22": "Abnormal circulating metabolite concentration", "23": "Hepatomegaly", "24": "Abnormal glucose homeostasis", "25": "Abnormal cns myelination", "26": "Failure to thrive", "27": "Visual impairment", "28": "Abnormal reflex", "29": "Cognitive impairment", "30": "Lactic acidosis", "31": "Mental deterioration", "32": "Upper motor neuron dysfunction", "33": "Spasticity", "34": "Reduced consciousness confusion", "35": "Phenotypic variability", "36": "Functional abnormality of the inner ear", "37": "Ptosis", "38": "Abnormality of cardiovascular system electrophysiology", "39": "Progressive", "40": "Generalized hypotonia", "41": "Abnormal myelination", "42": "Abnormal blood glucose concentration", "43": "Elevated hepatic transaminase", "44": "Abnormality of the biliary system", "45": "Abnormality of the abdominal organs", "46": "Developmental regression", "47": "Myoclonus", "48": "Intrauterine growth retardation", "49": "Cerebellar atrophy"} |