Hematology · Hematology / Hereditary cancer
Nijmegen breakage syndrome
also: Berlin breakage syndrome
Microcephaly, immunodeficiency and lymphoma risk.
- Specialty
- Hematology
- Subspecialty
- Hematology / Hereditary cancer
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes
- Gene(s) involved
- NBN
- Alternative names & eponyms
- Berlin breakage syndrome
Etiology & mechanism
NBN defect.
Gene(s) involved (1)
Symptoms & signs (5)
In plain terms, someone with Nijmegen breakage syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Bloom syndrome
immunodeficiency, lymphoma
2 shared
Hoyeraal–Hreidarsson syndrome
immunodeficiency, microcephaly
2 shared
Seckel syndrome
bird-like face, microcephaly
1 shared
Aicardi–Goutières syndrome
microcephaly
1 shared
Angelman syndrome
microcephaly
1 shared
Ataxia-telangiectasia
immunodeficiency
1 shared
Cartilage–hair hypoplasia syndrome
immunodeficiency
1 shared
Cerebral folate deficiency syndrome
microcephaly
1 shared
CHARGE syndrome
growth retardation
1 shared
Cockayne syndrome
microcephaly
Shares genes with
None.
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