Term Name: Nijmegen breakage syndrome
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 )

Relationships
is a type of: autosomal recessive disease syndrome