Nijmegen breakage syndrome-like disorder
Findings
No curated finding names Nijmegen breakage syndrome-like disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.
Definition from the Mondo Disease Ontology (MONDO:0013118), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
10 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.
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- Bird-like faciesHPOHP:0000320
- 1 of 1 reported patient · Congenital onset
- Chromosomal breakage induced by ionizing radiationHPOHP:0010997
- 1 of 1 reported patient
- Growth delayHPOHP:0001510
- 1 of 1 reported patient
- HypermetropiaHPOHP:0000540
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
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.
- RAD50HGNC:9816
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · G2P · Autosomal recessive · 2015
Where it sits
Other names
4 names
Resolves to: Nijmegen breakage syndrome-like disorder
- Also called
- microcephaly and chromosomal instability without immunodeficiencyNBs-like disorderNBSLDRAD50 deficiency