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中文Crane-Heise Syndrome
Alias:
Cleft Lip/palate, Agenesis of Clavicles and Cervical Vertebrae, and Talipes Equinovarus
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Crane-Heise 综合征，又称唇裂/腭裂、锁骨和颈椎缺如、马蹄内翻足，与脊柱骨发育不全1、常染色体隐性遗传和孤立性腭裂有关。Crane-Heise 综合征相关的重要基因是 FGD1（FYVE、RhoGEF 和 PH Domain Containing 1）。相关组织包括骨，相关表型为鼻梁凹陷和宽眼距。
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MALACARDS
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