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Nijmegen breakage syndrome

Disease 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.

ORPHA:647

  • Synonym(s):
    • AT V1
    • Ataxia-telangiectasia, variant 1
    • Berlin breakage syndrome
    • Immunodeficiency-microcephaly-chromosomal instability syndrome
    • Microcephaly-immunodeficiency-lymphoreticuloma syndrome
    • NBS
    • Seemanova syndrome type 2
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 251260
  • UMLS: C0398791  C2930831
  • MeSH: C531759  D049932
  • GARD: 3904
  • MedDRA: 10067857

Detailed information

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Additional information

Further information on this disease

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