" /> Nijmegen Breakage Syndrome - CISMeF





Preferred Label : Nijmegen Breakage Syndrome;

NCIt 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);

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31/07/2025


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