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中文Congenital Sialidosis Type 2
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先天性唾液酸酶缺乏症2型 与先天性唾液酸酶缺乏症2型相关的重要基因是NEU1（神经氨酸酶1）。相关组织包括眼睛和骨骼，相关表型包括肌张力减低和粗大的面部特征
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MALACARDS
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MGI
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