C4692Level 5
Nijmegen Breakage Syndrome
**Semantic type:** Disease or Syndrome
**Definition:** A disorder, wherein unstable chromosomes have a tendency to break and become rearranged, characterized by microcephaly, stunted growth, subnormal mental development, cafe-au-lait spots, and immunodeficiency. The syndrome is named after the University of Nijmegen in the Netherlands. (JABL99)
**Synonyms:** - NBS
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