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Nijmegen breakage syndrome

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Prevalence (%) of clinical parameters based on data from 3 references describing 246 individuals







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Microcephaly nervous 100 % 8929954 2012-01-10
Short stature multi 100 % 8929954 2012-01-10
Sloping forehead skeletal 100 % 10799436 2015-09-21
Prominent nose skeletal 100 % 10799436 2015-09-21
Micrognathia skeletal 100 % 10799436 2015-09-21
Radiosensitivity multi 96 % 10799436 2015-09-21
Recurrent infections respiratory 93 % 8929954 2012-01-10
Immune deficiency circulatory 93 % 8929954 2012-01-10
Prominent ears integumentary 83 % 10799436 2015-09-21
Developmental delay multi 73 % 26271390 2015-09-21
Developmental delay multi 73 % 26271390 2015-09-21
Epicanthal fold integumentary 71 % 10799436 2015-09-21
Clinodactyly skeletal 65 % 10799436 2015-09-21
Hypogammaglobulinemia lymphatic 62 % 26271390 2015-09-21
Cafe-au-lait spots integumentary 50 % 8929954 2012-01-10
Cancer circulatory 36 % 8929954 2012-01-10
Syndactyly skeletal 33 % 10799436 2015-09-21
Developmental delay nervous 20 % 8929954 2012-01-10
Increased IgM circulatory 14 % 26271390 2015-09-21
Mental retardation nervous 9 % 10799436 2015-09-21
Anal atresia digestive 7 % 10799436 2015-09-21



List of references:


Nijmegen breakage syndrome.
I van der Burgt, K H Chrzanowska, D Smeets, C Weemaes,



Journal of medical genetics - Feb 1996



Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group.




Archives of disease in childhood - May 2000



Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis.
Beata Wolska-Kuśnierz, Hanna Gregorek, Krystyna Chrzanowska, Barbara Piątosa, Barbara Pietrucha, Edyta Heropolitańska-Pliszka, Małgorzata Pac, Maja Klaudel-Dreszler, Larysa Kostyuchenko, Srdjan Pasic, Laszlo Marodi, Bernd H Belohradsky, Peter Čižnár, Anna Shcherbina, Sara Sebnem Kilic, Ulrich Baumann, Markus G Seidel, Andrew R Gennery, Małgorzata Syczewska, Bożena Mikołuć, Krzysztof Kałwak, Jan Styczyński, Anna Pieczonka, Katarzyna Drabko, Anna Wakulińska, Benjamin Gathmann, Michael H Albert, Urszula Skarżyńska, Ewa Bernatowska, ,



Journal of clinical immunology - Aug 2015