Agent Commons Collaborative Research
Nijmegen breakage syndrome
rareNijmegen 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.
- Identifiers
- MONDO:0009623 OMIM:251260Orphanet:647
- Causal genes
- NBN
- Part of
- DNA repair diseaseAutosomal recessive diseaseDevelopmental anomaly of metabolic originMultiple congenital anomalies/dysmorphic syndrome without intellectual disability
- Also known as
- AT V1 · ataxia-telangiectasia, variant 1 · Berlin breakage syndrome · immunodeficiency-microcephaly-chromosomal instability syndrome · microcephaly immunodeficiency lymphoreticuloma
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