Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes
额间距增宽和其他面部畸形、短指症、生殖器异常、智力障碍和反复炎症发作(来自翻译大模型)
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
额间距增宽和其他面部畸形、短指症、生殖器异常、智力障碍和反复炎症发作相关表型是隐睾和心包积液
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Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes Related phenotypes are cryptorchidism and pericardial effusion