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中文Birk-Aharoni Syndrome (BKAH)
Alias:
Neurodevelopmental Disorder with Poor Growth, Spastic Tetraplegia, and Hearing Loss
Nedgth
Bkah
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Birk-Aharoni 综合症，也被称为发育障碍伴生长不良、痉挛性四肢瘫痪和听力损失。与 Birk-Aharoni 综合症相关的重要基因是 PSMC1（26S 蛋白酶体亚基 ATP 酶 1）。相关组织包括睾丸和肝脏，相关表型为发育不良和舞蹈病。
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