Nijmegen breakage syndrome

Also known as: Berlin breakage syndrome

Microcephaly, immunodeficiency and lymphoma risk.

Medical specialty: Hematology
Subspecialty: Hematology / Hereditary cancer
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: NBN

Etiology & mechanism

NBN defect.

Gene(s) involved (1)

NBN

Symptoms & signs (5)

bird-like facegrowth retardationimmunodeficiencylymphomamicrocephaly

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.