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Nijmegen breakage syndrome
Summary
- Synonym
-
- Berlin breakage syndrome
- Microcephaly, normal intelligence and immunodeficiency
- NBS
- Seemanova syndrome II
- Seemanova syndrome type 2
- ataxia-telangiectasia variant
- immunodeficiency-microcephaly-chromosomal instability syndrome
- microcephaly-immunodeficiency-lymphoreticuloma syndrome
- Definition
- A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3.
- Super Class
- autosomal recessive disease syndrome
