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中文Chromosome 20q11-Q12 Deletion Syndrome (MRD11)
Alias:
Intellectual Developmental Disorder, Autosomal Dominant 11
Autosomal Dominant Intellectual Developmental Disorder 11
Mrd11
Intellectual Developmental Disorder, Autosomal Dominant 11, Included
Autosomal Dominant Non-Syndromic Intellectual Disability 11
Mental Retardation, Autosomal Dominant 11, Included
Mental Retardation, Autosomal Dominant, Type 11
Intellectual Disability, Autosomal Dominant 11
Autosomal Dominant Mental Retardation 11
Mrd11, Included
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20q11-Q12染色体缺失综合症，又称智力发育障碍，常染色体显性11型，与眼球内陷有关。与20q11-Q12染色体缺失综合症相关的重要基因是EPB41L1（红细胞膜蛋白带4.1类似1）。相关组织包括脑和眼，相关表型为全球发育延迟和智力障碍，严重程度不一。
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