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中文Basel-Vanagaite-Smirin-Yosef Syndrome (BVSYS)
Alias:
Basel-Vanagait-Smirin-Yosef Syndrome
Bvsys
Congenital Cataract-Microcephaly-Nevus Flammeus Simplex-Severe Intellectual Disability Syndrome
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巴塞尔-瓦纳盖特-斯米尔因-约瑟夫综合症，也称为巴塞尔-瓦纳盖特-斯米尔因-约瑟夫综合症，与多微小脑回、双侧边缘带、X连锁和多微小脑回有关。与巴塞尔-瓦纳盖特-斯米尔因-约瑟夫综合症相关的重要基因是MED25（中介复合物亚基25）。附属组织包括眼睛和大脑，相关表型为严重的全球发育延迟和前额的火焰痣。
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MALACARDS
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