Nijmegen breakage syndrome (DOID:7400)
Alliance: disease page
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
Alt IDs: OMIM:251260, MESH:D049932, NCI:C4692, ORDO:647, UMLS_CUI:C0398791
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.