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中文Spastic Paraplegia 17, Autosomal Dominant (SPG17)
Alias:
Silver Syndrome
Spg17
Silver Spastic Paraplegia Syndrome
Spastic Paraplegia with Amyotrophy of Hands and Feet
Hereditary Spastic Paraplegia 17
Spastic Paraplegia-Amyotrophy of Hands and Feet
Autosomal Dominant Spastic Paraplegia Type 17
Spastic Paraplegia 17
Paraplegia, Spastic, Autosomal Dominant, Type 17
Neuronopathy, Distal Hereditary Motor, Type Vb
Distal Hereditary Motor Neuropathy Type 5b
Autosomal Dominant Spastic Paraplegia 17
Russell-Silver Syndrome
Dhmn5b
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遗传性痉挛性截瘫17型，常染色体显性，也称为银病，与银-鲁塞尔综合征1和遗传性远端神经病，常染色体显性13有关。与遗传性痉挛性截瘫17型，常染色体显性相关的基因是BSCL2（BSCL2脂滴生成相关蛋白，Seipin）。相关组织包括大脑和脊髓，相关表型为高反射和巴宾斯基征。
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