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中文Nijmegen Breakage Syndrome (NBS)
Alias:
Berlin Breakage Syndrome
Nbs
Microcephaly, Normal Intelligence and Immunodeficiency
Seemanova Syndrome Type 2
Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome
Ataxia-Telangiectasia Variant
Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome
Ataxia-Telangiectasia, Variant 1
Seemanova Syndrome Ii
at V1
Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies
Nonsyndromal Microcephaly, Autosomal Recessive, with Normal Intelligence
Immunodeficiency, Microcephaly, and Chromosomal Instability
Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome
Immunodeficiency, Microcephaly with Normal Intelligence
Microcephaly with Normal Intelligence, Immunodeficiency
Microcephaly Immunodeficiency Lymphoreticuloma
Ataxia-Telangiectasia Variant V1
Ataxia Telangiectasia Variant V1
Telangiectasia Ataxia Variant V1
Ataxia-Telangiectasia Variant 1
Seemanova Syndrome
at-V1
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尼姆根断裂综合症，也被称为柏林断裂综合症，与尼姆根断裂综合症样障碍和动静脉畸形有关。与尼姆根断裂综合症相关的基因是NBN（Nibrin），其相关通路/超级通路包括基因表达（转录）和传染病。在该疾病的背景下提到了氟达拉滨和利妥昔单抗。附属组织包括T细胞和大脑，相关表型为短颈和鼻梁下陷
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