Nijmegen breakage syndrome
Findings
No curated finding names Nijmegen breakage syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.
Definition from the Mondo Disease Ontology (MONDO:0009623), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
90 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Chromosome breakageHPOHP:0040012
- 3 of 3 reported patients
- Decreased circulating IgA concentrationHPOHP:0002720
- 2 of 2 reported patients
- Decreased circulating IgE concentrationHPOHP:0005479
- 1 of 1 reported patient
- Decreased circulating IgG concentrationHPOHP:0004315
- 1 of 1 reported patient
- Decreased circulating IgM concentrationHPOHP:0002850
- 1 of 1 reported patient
- Decreased total lymphocyte countHPOHP:0001888
- 1 of 1 reported patient
- Downslanted palpebral fissures
Show the remaining 78
- Intrauterine growth retardationHPOHP:0001511
- 1 of 1 reported patient
- Long philtrumHPOHP:0000343
- 2 of 2 reported patients
- LymphadenopathyHPOHP:0002716
- 1 of 1 reported patient
- MacrotiaHPOHP:0000400
- 13 of 13 reported patients
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- 11 of 11 reported patients · Congenital onset
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NBNHGNC:7652
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: Nijmegen breakage syndrome
- Also called
- AT V1ataxia-telangiectasia, variant 1Berlin breakage syndromeimmunodeficiency-microcephaly-chromosomal instability syndromeNBSSeemanova syndromeSeemanova syndrome type 2