Disease #05873 (KABUK (Kabuki syndrome (KABUK)))

Official abbreviation KABUK
Name Kabuki syndrome (KABUK)
OMIM ID -
Inheritance Autosomal dominant
Individuals reported having this disease 41
Phenotype entries for this disease 40
Associated with 2 genes KDM6A, KMT2D
Associated tissues -
Disease features -
Remarks -
Date created 2020-11-08 17:13:44 +01:00 (CET)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

41 entries on 1 page. Showing entries 1 - 41.
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00319874 - PubMed: Yang 2016 - F - China - - - - - KABUK see paper; ... KDM6A KDM6A 1 1 Johan den Dunnen
00319875 - PubMed: Banka 2014 - - - - - - - - - KABUK see paper; ... KDM6A KDM6A 1 1 Johan den Dunnen
00319876 - PubMed: Micale 2014 - - - Italy - - - - - KABUK see paper; ... KDM6A KDM6A 1 1 Johan den Dunnen
00319877 - PubMed: Lederer 2014 3-generation family, 2 affected brothers, mother and maternal grandmother - - Belgium - - - - - KABUK see paper; ... KDM6A KDM6A 1 4 Johan den Dunnen
00319878 - PubMed: Micale 2014 - - - Italy - - - - - KABUK see paper; ... KDM6A KDM6A 1 1 Johan den Dunnen
00319879 - PubMed: Banka 2014 - - - - - - - - - KABUK see paper; ... KDM6A KDM6A 1 1 Johan den Dunnen
00319880 - PubMed: Morgan 2015 - - - Australia - - - - - KABUK see paper; ... KDM6A KDM6A 1 1 Johan den Dunnen
00319881 - PubMed: Micale 2014 - - - Italy - - - - - KABUK see paper; ... KDM6A KDM6A 1 1 Johan den Dunnen
00319882 - PubMed: Banka 2014 - - - - - - - - - KABUK see paper; ... KDM6A KDM6A 1 1 Johan den Dunnen
00319883 - PubMed: Banka 2014 - - - - - - - - - KABUK see paper; ... KDM6A KDM6A 1 1 Johan den Dunnen
00319884 - PubMed: Van Laarhoven 2015 - - - United States - - - - - KABUK see paper; ... KDM6A KDM6A 1 1 Johan den Dunnen
00319885 - PubMed: Cheon 2014 - - - Korea - - - - - KABUK see paper; ... KDM6A KDM6A 1 1 Johan den Dunnen
00319886 - PubMed: Banka 2014 - - - - - - - - - KABUK see paper; ... KDM6A KDM6A 1 1 Johan den Dunnen
00319887 - PubMed: Banka 2014 - - - - - - - - - KABUK see paper; ... KDM6A KDM6A 1 1 Johan den Dunnen
00319888 - PubMed: Banka 2014 - - - - - - - - - KABUK see paper; ... KDM6A KDM6A 1 1 Johan den Dunnen
00319889 - PubMed: Van Laarhoven 2015 - - - United States - - - - - KABUK see paper; ... KDM6A KDM6A 1 1 Johan den Dunnen
00319896 - PubMed: Brackmann 2012 - - - Germany - - - - - KABUK see paper; ... KMT2D KMT2D 1 1 Johan den Dunnen
00319897 - PubMed: Courcet 2013 - - - France - - - - - KABUK see paper; ... KMT2D KMT2D 1 1 Johan den Dunnen
00319898 - PubMed: Giordano 2014 - - - Italy - - - - - KABUK see paper; ... KMT2D KMT2D 1 1 Johan den Dunnen
00319899 - PubMed: Karagianni 2016 - - - Greece - - - - - KABUK see paper; ... KMT2D KMT2D 1 1 Johan den Dunnen
00319900 - PubMed: Lindsley 2016 - - - - - - - - - KABUK see paper; ... KMT2D KMT2D 1 1 Johan den Dunnen
00319901 - PubMed: Lindsley 2016 - - - - - - - - - KABUK see paper; ... KMT2D KMT2D 1 1 Johan den Dunnen
00319902 - PubMed: Lindsley 2016 - - - - - - - - - KABUK see paper; ... KMT2D KMT2D 1 1 Johan den Dunnen
00319903 - PubMed: Lindsley 2016 - - - - - - - - - KABUK see paper; ... KMT2D KMT2D 1 1 Johan den Dunnen
00319904 - PubMed: Lindsley 2016 - - - - - - - - - KABUK see paper; ... KMT2D KMT2D 1 1 Johan den Dunnen
00319905 - PubMed: Lindsley 2016 - - - - - - - - - KABUK see paper; ... KMT2D KMT2D 1 1 Johan den Dunnen
00319906 - PubMed: Lindsley 2016 - - - - - - - - - KABUK see paper; ... KMT2D KMT2D 1 1 Johan den Dunnen
00319907 - PubMed: Lindsley 2016 - - - - - - - - - KABUK see paper; ... KMT2D KMT2D 1 1 Johan den Dunnen
00319908 - PubMed: Lindsley 2016 - - - - - - - - - KABUK see paper; ... KMT2D KMT2D 1 1 Johan den Dunnen
00319909 - PubMed: McVeigh 2015 - - - United Kingdom (Great Britain) - - - - - KABUK see paper; ... KMT2D KMT2D 1 1 Johan den Dunnen
00319910 - PubMed: Schulz 2014 - - - - - - - - - KABUK see paper; ... KMT2D KMT2D 1 1 Johan den Dunnen
00319911 CMH471 PubMed: Soden 2014 - - - United States - - - - - KABUK see paper; ... KMT2D KMT2D 1 1 Johan den Dunnen
00319912 - PubMed: Verhagen 2014 - - - Netherlands - - - - - KABUK see paper; ... KMT2D KMT2D 1 1 Johan den Dunnen
00319915 Pat3 PubMed: Banka 2013 - - - United Kingdom (Great Britain) - - - - - KABUK see paper; ... KMT2D KMT2D 1 1 Johan den Dunnen
00319916 twins PubMed: Riess 2012 monozygotic twin brothers - - Germany - - - - - KABUK see paper; ..., microcephaly, cleft lip/cleft palate (left-sided one twin, right-sided other twin), congenital heart disease KMT2D KMT2D 1 2 Johan den Dunnen
00319917 Pat5 PubMed: Banka 2013 - - - United Kingdom (Great Britain) - - - - - KABUK see paper; ... KMT2D KMT2D 1 1 Johan den Dunnen
00319918 Pat4 PubMed: Banka 2013 - - - United Kingdom (Great Britain) - - - - - KABUK see paper; ... KMT2D KMT2D 1 1 Johan den Dunnen
00419681 - - - F - Italy white - - - - KABUK - KMT2D KMT2D 1 1 MariaGnazzo
00424915 - - - M - - - - - - - KABUK - HNRNPK, KDM6A, KMT2A, KMT2D, RAP1A, RAP1B KMT2D 1 1 Valerie Benoit
00457831 - - - F - - (not applicable) white - - - - KABUK HP:0002023, HP:0000252, HP:0012443, HP:0001508, HP:0500093, HP:0000271 - KMT2D 1 1 Marketa Wayhelova
00458100 - - - F - - (not applicable) white - - - - KABUK HP:0004467, HP:0009062, HP:0001382, HP:0000248, HP:0000637 - KMT2D 1 1 Marketa Wayhelova
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