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

Official abbreviation KABUK
Name Kabuki syndrome (KABUK)
OMIM ID -
Inheritance Autosomal dominant
Individuals reported having this disease 83
Phenotype entries for this disease 82
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

83 entries on 1 page. Showing entries 1 - 83.
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00319874 - PubMed: Yang 2016 - F - China - - - - - 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
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
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
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
00472037 Pat1 PubMed: Banka 2015 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - KABUK see paper; ..., KDM6A KDM6A 1 1 Johan den Dunnen
00472038 Pat2 PubMed: Banka 2015 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - KABUK see paper; ..., KDM6A KDM6A 1 1 Johan den Dunnen
00472039 Pat3 PubMed: Banka 2015 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - KABUK see paper; ..., KDM6A KDM6A 1 1 Johan den Dunnen
00472040 Pat4 PubMed: Banka 2015 2-generation family, 1 affected, unaffected non-carrier parents M - Belgium - - - - - KABUK see paper; ..., KDM6A KDM6A 1 1 Johan den Dunnen
00472041 Pat5 PubMed: Banka 2015 2-generation family, 1 affected, unaffected non-carrier parents F - Belgium - - - - - KABUK see paper; ..., KDM6A KDM6A 1 1 Johan den Dunnen
00472042 Pat6 PubMed: Banka 2015 2-generation family, 1 affected, unaffected non-carrier parents M - Belgium - - - - - KABUK see paper; ..., KDM6A KDM6A 1 1 Johan den Dunnen
00472043 Pat7 PubMed: Banka 2015 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - KABUK see paper; ..., KDM6A KDM6A 1 1 Johan den Dunnen
00472044 Pat1 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected parents F - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472045 Pat4 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected carrier mother M - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472046 Pat11 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472047 Pat15 PubMed: Faundes 2021 2-generation family, patient, affected mother (not tested) M - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472048 Pat16 PubMed: Faundes 2021 2-generation family, patient, affected mother (not tested) M - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472049 Pat17 PubMed: Faundes 2021 2-generation family, patient, mother not analysed M - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472050 Pat20 PubMed: Faundes 2021 2-generation family, patient, similarly affected carrier father F - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472051 Pat22 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472052 Pat25 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472053 Pat30 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472054 Pat31 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected parents M - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472055 Pat32 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472056 Pat38 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472057 Pat39 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected parents M - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472058 Pat41 PubMed: Faundes 2021 2-generation family, patient, mother not analysed M - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472059 Pat43 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472060 Pat44 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472061 Pat51 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472062 Pat52 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472063 Pat55 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472064 Pat57 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472065 Pat59 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected parents F - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472066 Pat60 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472067 Pat64 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472068 Pat66 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected parents M - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472069 Pat67 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472070 Pat68 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472071 Pat69 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472072 Pat72 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected parents M - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472073 Pat74 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472074 Pat75 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472075 Pat79 PubMed: Faundes 2021 2-generation family, 1 affected, unaffected parents F - - - - - - - KABUK see paper; ..., - KDM6A 1 1 Johan den Dunnen
00472078 Pat8 PubMed: Yap 2019 2-generation family, 1 affected, unaffected non-carrier parents F no - white - - - - KABUK see paper; ..., depressed nasal bridge; prominent eyes; small jaw; left ddh with pavlik harness; normal hands; sacral dimple; pda and small pfo with mild concentric lvh; feeding difficulties, cows milk protein intolerance; no urogenital anomalies; premature thelarche - KDM6A 1 1 Johan den Dunnen
00472079 Pat4 PubMed: Yap 2019 2-generation family, 1 affected, unaffected non-carrier parents F no Iran;Italy - - - - - KABUK see paper; ..., long palpebral fissures, eversion of lateral third of lower eyelid, arched/sparse eyebrows, depressed/flat nasal tip, large/dysmorphic ears; normal eye; normal mouth; hip dysplasia; fetal fingertip pads; neonatal hypotonia; no cardiovascular anomalies; feeding difficulties and gastroesophageal reflux; no urogenital anomalies; short stature - KDM6A 1 1 Johan den Dunnen
00472080 Pat9 PubMed: Yap 2019 2-generation family, 1 affected, unaffected non-carrier parents F no Iran;Italy - - - - - KABUK see paper; ..., long eyelashes; normal eye; high arch palate, small jaw; no skeletal anomalies; reduced subcutaneous fat; truncal hypotonia, mild developmental delay; no cardiovascular anomalies; feeding difficulties; no urogenital anomalies; poor weight gain and short stature - KDM6A 1 1 Johan den Dunnen
00472081 Pat1 PubMed: Yap 2019 2-generation family, 1 affected, unaffected non-carrier parents M - Italy;Germany;Slovakia (Slovak Republic) no - - - - KABUK see paper; ..., long palpebral fissures; left homonymous hemianopsia visual field defect, exotropia (since resolved), and bilateral hyperopia; thin upper lip vermilion; hip dysplasia; normal hands; congenital partial agenesis of the corpus callosum with right paramedian posterior interhemispheric cyst, developmental delay, seizures; small atrial septal defect and resolving biventricular hypertrophy; feeding difficulties and gastroesophageal reflux; no urogenital anomalies; short stature: height <5th percentile - KDM6A 1 1 Johan den Dunnen
00472082 Pat2 PubMed: Yap 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - white - - - - KABUK see paper; ..., long eyelashes, low-set ears, protruding ear lobes; left-side strabismus; normal mouth; no skeletal anomalies; fleshy finger pads; decreased symmetric muscle tone and strength; no cardiovascular anomalies; no gastrointestinal anomalies; no urogenital anomalies; no short stature - KDM6A 1 1 Johan den Dunnen
00472083 Pat5 PubMed: Yap 2019 2-generation family, 1 affected, unaffected non-carrier parents M no - Hispanic - - - - KABUK see paper; ..., long palpebral fissures, short nasal septum, arching eyebrows; normal eye; normal mouth; no skeletal anomalies; normal hands; hearing loss, developmental delay; atrial septal defect; feeding difficulties; no urogenital anomalies; no short stature - KMT2D 1 1 Johan den Dunnen
00472084 Pat3 PubMed: Yap 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - Hispanic;Latino - - - - KABUK see paper; ..., long palpebral fissures with lateral eversion of eyelid; normal eye; thin upper lip vermilion; sacral dimple with hair tuft; 5th finger clinodactyly, tapering fingers, abnormal palmar creases, fleshy finger pads; developmental delay; no cardiovascular anomalies; feeding difficulties; dysplastic left kidney, renal cysts in right; short stature: 5th percentile in height - KMT2D 1 1 Johan den Dunnen
00472085 Pat10 PubMed: Yap 2019 2-generation family, 1 affected, unaffected non-carrier parents M - Ecuador - - - - - KABUK see paper; ..., arched eyebrows; long eyelashes, blue sclerae; developmentally delayed; heart murmur, ventricular septal defect; imperforate anus, gerd; undescended testes; low weight and height - KMT2D 1 1 Johan den Dunnen
00472086 Pat6 PubMed: Yap 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - white - - - - KABUK see paper; ..., long palpebral fissures, short nasal septum, low set ear; normal eye; normal mouth; no skeletal anomalies; normal hands; hearing loss, developmental delay; no cardiovascular anomalies; feeding difficulties; no urogenital anomalies; no short stature - KMT2D 1 1 Johan den Dunnen
00472087 Pat7 PubMed: Yap 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - Asia - - - - KABUK see paper; ..., long palpebral fissures; normal eye; normal mouth; sacral dimple; normal hands; developmental delay; one umbilical artery; feeding difficulties; no urogenital anomalies; no short stature - KMT2D 1 1 Johan den Dunnen
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