Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

阿尔法地中海贫血-智力障碍综合征(来自翻译大模型)

别称:

Atr-X Syndrome

Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome

Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type, X-Linked

Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type

Alpha-Thalassemia/mental Retardation Syndrome Nondeletion Type

Alpha Thalassemia X-Linked Intellectual Disability Syndrome

Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

Alpha Thalassemia X-Linked Intellectual Disability Syndrome

Alpha Thalassemia X-Linked Mental Retardation Syndrome

Alpha-Thalassemia X-Linked Mental Retardation Syndrome

X-Linked Alpha-Thalassemia/mental Retardation Syndrome

Alpha Thalassemia/mental Retardation, X-Linked

Xlmr-Hypotonic Face Syndrome

Atr, Nondeletion Type

Atrx Syndrome

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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

Alpha Thalassemia-X-Linked Intellectual Disability Syndrome, 也被称为 atr-x 综合征，与自闭症和小头畸形有关，症状包括便秘。Alpha Thalassemia-X-Linked Intellectual Disability Syndrome 关联的重要基因是 ATRX (ATRX Chromatin Remodeler)，其相关通路/超级通路包括基因表达（转录）和 RNA 聚合酶 I 基因启动子开放。附属组织包括睾丸和皮肤，相关表型包括智力障碍和失语症。

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