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中文Baralle-Macken Syndrome (BARMACS)
Alias:
Neurodevelopmental Disorder with Cataracts and Variable Microcephaly
Barmacs
Intellectual Disability-Early-Onset Cataract-Microcephaly Syndrome
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巴雷尔-麦肯综合症，又称伴有白内障和可变性小头畸形的神经发育障碍。与巴雷尔-麦肯综合症有关的重要基因是COPB1（COPI包被复合物亚基β1）。相关组织包括眼睛和T细胞，相关表型为白内障和新生儿肌张力低下。
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MALACARDS
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