Term Name: | Nijmegen breakage syndrome |
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Synonyms: | ataxia-telangiectasia variant, Berlin breakage syndrome, immunodeficiency-microcephaly-chromosomal instability syndrome, Microcephaly, normal intelligence and immunodeficiency, microcephaly-immunodeficiency-lymphoreticuloma syndrome, NBS, Seemanova syndrome II, Seemanova syndrome type 2 |
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. |
Ontology: | Human Disease [DOID:7400] ( DOID:7400 ) |