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中文Rett Syndrome (RTT)
Alias:
Atypical Rett Syndrome
Rtt
Rett Syndrome, Preserved Speech Variant
Rett Syndrome, Atypical
Rett Syndrome Variant
Rett's Disorder
Rett Disorder
Atypical Rtt
Rts
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome
Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use
Rett Syndrome Preserved Speech Variant
Rett Syndrome, Zappella Variant
Cerebroatrophic Hyperammonemia
Rett Syndrome Zappella Variant
Rett's Syndrome
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雷特综合症，又称非典型雷特综合症，与发育性和癫痫性脑病2和16p13.3缺失综合征有关，靠近，并且有背痛、消瘦和便秘等症状。与雷特综合症有关的重要基因是MECP2（甲基化CpG结合蛋白2），其相关通路/超级通路包括神经科学和染色质调节/乙酰化。在该疾病的背景下提到了多巴胺和利培酮。附属组织包括大脑和眼睛，相关表型为智力障碍和癫痫。
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