Nijmegen breakage syndrome

Term ID

DOID:7400

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. (2)

References

• GARD:3904
• MESH:D049932
• MIM:251260
• NCI:C4692
• ORDO:647
• SNOMEDCT_US_2023_03_01:234638009
• UMLS_CUI:C0398791

Ontology

Human Disease   ( DOID:7400 )