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中文Lipodystrophy, Familial Partial, Type 7 (FPLD7)
Alias:
Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome
Fpld7
Lccns
Partial Lipodystrophy, Congenital Cataracts, with or Without Neurodegeneration Syndrome
Lipodystrophy, Partial, with Congenital Cataracts and Neurodegeneration
Lipodystrophy, Familial Partial, 7
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脂肪萎缩，家族性部分型7，也被称为部分脂肪萎缩、先天性白内障和神经退行性综合症，症状包括抽搐。与脂肪萎缩，家族性部分型7有关的重要基因是CAV1（Caveolin 1）。关联组织包括脊髓和皮肤，相关表型是高甘油三酯血症和三角脸。
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