Human genes for Nijmegen breakage syndrome
Nijmegen breakage syndrome [DOID:7400]
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.
Synonyms: Nijmegen breakage syndrome, DOID:7400, Nijmegen breakage disease, Nijmegen breakage disorder, Nijmegen breakage syndromes ...