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中文Intellectual Developmental Disorder, Autosomal Recessive 48 (MRT48)
Alias:
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Mrt48
Autosomal Recessive Intellectual Developmental Disorder 48
Mental Retardation, Autosomal Recessive, Type 48
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智力发育障碍，常染色体隐性48型，也被称为进行性必需性震颤-言语障碍-面部畸形-智力障碍-异常行为综合症。与智力发育障碍，常染色体隐性48型有关的重要基因是SLC6A17（溶质载体家族6成员17）。相关组织包括乳腺和大脑，相关表型为全球发育延迟和巨耳。
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