Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language

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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
神经发育障碍伴严重运动障碍和语言缺失与神经发育障碍伴可变运动和语言障碍及斜视有关。与神经发育障碍伴严重运动障碍和语言缺失有关的重要基因是DHX30(DExH-Box Helicase 30)。相关组织包括舌和皮肤,相关表型为智力障碍和肌张力低下。
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Basic Information

Inheritance
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Reference
MALACARDS
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References Literature

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