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中文Intellectual Developmental Disorder, Autosomal Recessive 39 (MRT39)
Alias:
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Mental Retardation, Autosomal Recessive 39
Mrt39
Autosomal Recessive Intellectual Developmental Disorder 39
Mental Retardation, Autosomal Recessive, Type 39
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智力发育障碍，常染色体隐性39型，也被称为严重智力障碍-矮小-行为异常-面部畸形综合症。与智力发育障碍，常染色体隐性39型有关的重要基因是TTI2（TELO2相互作用蛋白2）。相关组织包括T细胞和眼睛，相关表型为全球发育延迟和面部畸形。
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