| {"0": "Dermal atrophy", "1": "Increased serum lactate", "2": "Scarring", "3": "Abnormality of acid base homeostasis", "4": "Ambiguous genitalia", "5": "Lactic acidosis", "6": "Abnormality of earlobe", "7": "Abnormal ureter morphology", "8": "Increased csf lactate", "9": "Abnormality of the helix", "10": "Brisk reflexes", "11": "Aplasia hypoplasia of the skin", "12": "Partial agenesis of the corpus callosum", "13": "Stroke", "14": "Abnormal csf metabolite level", "15": "Abnormal tricuspid valve physiology", "16": "Lower limb hyperreflexia", "17": "Arthrogryposis multiplex congenita", "18": "Abnormal activity of mitochondrial respiratory chain", "19": "Metabolic acidosis", "20": "Ketosis", "21": "Palpitations", "22": "Abnormality of the mitochondrion", "23": "Abnormal blood glucose concentration", "24": "Broad philtrum", "25": "Abnormal circulating dicarboxylic acid concentration", "26": "Congenital contracture", "27": "Vocal cord paralysis", "28": "Flushing", "29": "Decreased activity of mitochondrial complex i", "30": "Hyperactive patellar reflex", "31": "Abnormal pancreas morphology", "32": "Functional abnormality of the middle ear", "33": "Progressive", "34": "Decreased activity of mitochondrial complex iv", "35": "Dicarboxylic aciduria", "36": "Tachycardia", "37": "Spastic gait", "38": "Hyperkeratosis", "39": "Abnormal circulating bilirubin concentration", "40": "Abnormal choroid morphology", "41": "Abnormal chorioretinal morphology", "42": "Episodic hyperhidrosis", "43": "3 methylglutaconic aciduria", "44": "Goiter", "45": "Decreased plasma carnitine", "46": "Primary adrenal insufficiency", "47": "Abnormal distal phalanx morphology of finger", "48": "Intellectual disability progressive", "49": "Limitation of joint mobility"} |