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中文Spondyloepimetaphyseal Dysplasia, Genevieve Type (SEMDG)
Alias:
Semdg
Semd, Genevieve Type
Nans Deficiency
Dysplasia, Spondyloepimetaphyseal, Camera-Genevieve Type
Spondyloepimetaphyseal Dysplasia, Camera-Genevieve Type
Spondyloepimetaphyseal Dysplasia, Genevieve-Type
Spondyloepimetaphyseal Dysplasia, Geneviève Type
Semd, Geneviève Type
Semd Genevieve Type
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脊柱-外周-基质发育不良，Genevieve 型，也被称为 semdg。与脊柱-外周-基质发育不良，Genevieve 型相关的基因是 NANS（N-乙酰神经胺酸合成酶）。相关组织包括骨和脑，相关表型为癫痫和斜视。
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