Disease #00504 (KABUK2 (syndrome, Kabuki, type 2 (KABUK2)), OMIM:300867)

Official abbreviation KABUK2
Name syndrome, Kabuki, type 2 (KABUK2)
OMIM ID 300867
Human Phenotype Ontology Project (HPO) HPO
Inheritance XLD
Individuals reported having this disease 28
Phenotype entries for this disease 28
Associated with 1 gene KDM6A
Associated tissues -
Disease features -
Remarks -


Individuals

28 entries on 1 page. Showing entries 1 - 28.
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00073308 19377200-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - KABUK2 mental retardation KDM6A KDM6A 1 29 Lucy Raymond
00073309 19377201-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - KABUK2 mental retardation KDM6A KDM6A 1 27 Lucy Raymond
00073310 - PubMed: Miyake 2013 - M no Japan - - 0 - - KABUK2 see paper KDM6A KDM6A 1 1 Noriko Miyake
00073311 - PubMed: Miyake 2013 - M - - - - 0 - - KABUK2 - KDM6A KDM6A 1 1 Noriko Miyake
00073312 - PubMed: Miyake 2013 - F no Japan - - 0 - - KABUK2 see paper KDM6A KDM6A 1 1 Noriko Miyake
00073313 - author, submitted - - - - - - 0 - - KABUK2 - KDM6A KDM6A 1 1 Giuseppe Merla
00073314 - author, submitted - - - - - - 0 - - KABUK2 - KDM6A KDM6A 1 1 Giuseppe Merla
00073315 - author, submitted - - - - - - 0 - - KABUK2 - KDM6A KDM6A 1 1 Giuseppe Merla
00073316 - PubMed: Lederer 2012 - F no Belgium - - 0 - - KABUK2 see paper KDM6A KDM6A 1 1 Johan den Dunnen
00073317 - PubMed: Lederer 2012 - F no Belgium - - 0 - - KABUK2 see paper KDM6A KDM6A 1 1 Johan den Dunnen
00073318 - PubMed: Lederer 2012 - M no Italy - - 0 - - KABUK2 see paper KDM6A KDM6A 1 1 Johan den Dunnen
00073319 - PubMed: Miyake 2013 - F no Japan - - 0 - - KABUK2 see paper KDM6A KDM6A 1 1 Johan den Dunnen
00073320 - PubMed: Miyake 2013 - F no Japan - - 0 - - KABUK2 see paper KDM6A KDM6A 1 1 Johan den Dunnen
00073321 - - - M no Belgium Caucasian - 0 - - KABUK2 - KDM6A KDM6A 1 1 Glynis Frans
00073322 P212 PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - F no Turkey Turkish - 0 - - KABUK2 not small for gestational age; no short stature; microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; long, thick eyelashes; no blue sclerae; arched eyebrows; lateral sparseness eyebrows; depressed nasal tip; short columella; downslanting corners mouth; no cataracts; no strabismus; no cleft palate; no high arched palate; micrognathia; brachydactyly of the fifth finger; no clinodactyly fifth finger; no scoliosis; hip dysplasia; joint laxity; no foot deformity; no nail dystrophy; thin temporal hair (infancy); no hypertrichosis; persistent fetal finger pads; intellectual disability; muscular hypotonia; feeding difficulties; seizures; structural brain anomaly; no hearing loss; no atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; no renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no autoimmunity; pulmonary infections; frequent upper airway infections; recurrent otitis media in infancy; no immunodeficiency; no tumor; no leukemia; no neonatal hypoglycemia; no obesity; no precocious puberty; no premature thelarche KDM6A KDM6A 1 1 Nina Bögershausen
00073323 P209 PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - F no Germany German - 0 - - KABUK2 not small for gestational age; no short stature; no microcephaly; large/dysplastic ears; long palpebral fissures; no eversion lower eyelid; no long, thick eyelashes; no blue sclerae; arched eyebrows; lateral sparseness eyebrows; depressed nasal tip; short columella; downslanting corners mouth; no cataracts; no strabismus; no cleft palate; high arched palate; micrognathia; brachydactyly of the fifth finger; clinodactyly fifth finger; no scoliosis; no hip dysplasia; joint laxity; no foot deformity; no nail dystrophy; thin temporal hair (infancy); no hypertrichosis; intellectual disability; muscular hypotonia; feeding difficulties; no seizures; no structural brain anomaly; no hearing loss; atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no autoimmunity; no neonatal hypoglycemia; sacral dimple, simian crease, widely spaced nipples KDM6A KDM6A 1 1 Nina Bögershausen
00073324 P210 PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - F no France ? - 0 - - KABUK2 small for gestational age; short stature; microcephaly; no large/dysplastic ears; long palpebral fissures; no eversion lower eyelid; no long, thick eyelashes; no blue sclerae; arched eyebrows; lateral sparseness eyebrows; no depressed nasal tip; no short columella; no downslanting corners mouth; no cataracts; no strabismus; no cleft palate; high arched palate; no micrognathia; selective tooth agenesis; no supernumerary teeth; malocclusion; no dental caries; prominent upper incisors; brachydactyly of the fifth finger; clinodactyly fifth finger; no scoliosis; no hip dysplasia; no joint laxity; no foot deformity; no nail dystrophy; no thin temporal hair (infancy); no hypertrichosis; persistent fetal finger pads; intellectual disability; no muscular hypotonia; feeding difficulties; no seizures; no structural brain anomaly; no hearing loss; no atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no autoimmunity; no pulmonary infections; no frequent upper airway infections; no recurrent otitis media in infancy; no immunodeficiency; no tumor; no leukemia; neonatal hypoglycemia; no obesity; no precocious puberty; no premature thelarche; horseshoe kidney KDM6A KDM6A 1 1 Nina Bögershausen
00073325 P211 PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - F no France ? - 0 - - KABUK2 not small for gestational age; no short stature; no microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; long, thick eyelashes; blue sclerae; arched eyebrows; lateral sparseness eyebrows; depressed nasal tip; short columella; no downslanting corners mouth; no cataracts; no strabismus; no cleft palate; high arched palate; no micrognathia; no selective tooth agenesis; no oligodontia; no supernumerary teeth; no dental crowding; no malocclusion; no dental caries; no prominent upper incisors; no brachydactyly of the fifth finger; clinodactyly fifth finger; no scoliosis; hip dysplasia; no joint laxity; foot deformity; no nail dystrophy; no thin temporal hair (infancy); no hypertrichosis; persistent fetal finger pads; intellectual disability; muscular hypotonia; feeding difficulties; no seizures; no hearing loss; no atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; no renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no autoimmunity; no pulmonary infections; no frequent upper airway infections; recurrent otitis media in infancy; no immunodeficiency; no tumor; no leukemia; neonatal hypoglycemia; no obesity; no precocious puberty; no premature thelarche; juvenile idiopathic osteoarthritis KDM6A KDM6A 1 1 Nina Bögershausen
00073326 P213 PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - M no France French - 0 - - KABUK2 small for gestational age; short stature; no microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; long, thick eyelashes; no blue sclerae; arched eyebrows; no lateral sparseness eyebrows; depressed nasal tip; no short columella; downslanting corners mouth; no cataracts; strabismus; no cleft palate; micrognathia; no prominent upper incisors; brachydactyly of the fifth finger; clinodactyly fifth finger; no scoliosis; no hip dysplasia; joint laxity; no foot deformity; no nail dystrophy; no hypertrichosis; persistent fetal finger pads; intellectual disability; muscular hypotonia; feeding difficulties; no seizures; no structural brain anomaly; no hearing loss; no atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; no renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no pulmonary infections; no frequent upper airway infections; no immunodeficiency; no tumor; no leukemia; no obesity; cachexia, no walking, no speech at age 10 KDM6A KDM6A 1 1 Nina Bögershausen
00073327 P214 PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - M no Turkey Turkish - 0 - - KABUK2 not small for gestational age; no short stature; microcephaly; large/dysplastic ears; long palpebral fissures; no eversion lower eyelid; long, thick eyelashes; no blue sclerae; arched eyebrows; no lateral sparseness eyebrows; depressed nasal tip; short columella; no downslanting corners mouth; no cataracts; no strabismus; cleft palate; no high arched palate; no micrognathia; no selective tooth agenesis; no oligodontia; no supernumerary teeth; no dental crowding; malocclusion; no dental caries; no prominent upper incisors; brachydactyly of the fifth finger; clinodactyly fifth finger; no scoliosis; no hip dysplasia; joint laxity; no foot deformity; no nail dystrophy; no thin temporal hair (infancy); no hypertrichosis; persistent fetal finger pads; intellectual disability; no muscular hypotonia; no feeding difficulties; no seizures; no hearing loss; no atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; no renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no autoimmunity; no pulmonary infections; no frequent upper airway infections; no recurrent otitis media in infancy; no immunodeficiency; no tumor; no leukemia; no neonatal hypoglycemia; no obesity; no precocious puberty; thorax asymmetry KDM6A KDM6A 1 1 Nina Bögershausen
00073328 P215 PubMed: Bögershausen 2016, Journal: Bögershausen 2016 2-generation family, affected mother/son M no France ? - 0 - - KABUK2 - KDM6A KDM6A 1 1 Nina Bögershausen
00073329 P216 PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - F no Turkey Turkish - 0 - - KABUK2 not small for gestational age; no short stature; no microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; long, thick eyelashes; blue sclerae; arched eyebrows; lateral sparseness eyebrows; depressed nasal tip; short columella; downslanting corners mouth; no cataracts; no strabismus; no cleft palate; high arched palate; no micrognathia; no selective tooth agenesis; no oligodontia; no supernumerary teeth; no dental crowding; no malocclusion; no dental caries; no prominent upper incisors; brachydactyly of the fifth finger; no clinodactyly fifth finger; no scoliosis; no hip dysplasia; joint laxity; no foot deformity; no nail dystrophy; thin temporal hair (infancy); no hypertrichosis; persistent fetal finger pads; no intellectual disability; muscular hypotonia; no feeding difficulties; no seizures; no hearing loss; no atrial/ventricular septal defect; coarctation of aorta; no tetralogy of Fallot; no renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no autoimmunity; no pulmonary infections; frequent upper airway infections; no recurrent otitis media in infancy; no immunodeficiency; no tumor; no leukemia; no neonatal hypoglycemia; no obesity; no precocious puberty; premature thelarche; bicuspid aortic valve, accessory spleen KDM6A KDM6A 1 1 Nina Bögershausen
00073330 P217 PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - F no France ? - 0 - - KABUK2 not small for gestational age; no short stature; no microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; long, thick eyelashes; blue sclerae; no arched eyebrows; lateral sparseness eyebrows; no depressed nasal tip; short columella; downslanting corners mouth; no strabismus; no cleft palate; high arched palate; no micrognathia; no brachydactyly of the fifth finger; no clinodactyly fifth finger; hip dysplasia; no joint laxity; no nail dystrophy; thin temporal hair (infancy); no hypertrichosis; persistent fetal finger pads; intellectual disability; muscular hypotonia; feeding difficulties; no seizures; structural brain anomaly; no hearing loss; atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; no renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no pulmonary infections; no frequent upper airway infections; no recurrent otitis media in infancy; no tumor; no leukemia; neonatal hypoglycemia; left ventricular hypertrophy KDM6A KDM6A 1 1 Nina Bögershausen
00073331 P218 PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - M no France ? - 0 - - KABUK2 not small for gestational age; no short stature; no microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; no long, thick eyelashes; blue sclerae; arched eyebrows; lateral sparseness eyebrows; no depressed nasal tip; short columella; downslanting corners mouth; no strabismus; no cleft palate; no high arched palate; no micrognathia; no selective tooth agenesis; no brachydactyly of the fifth finger; no clinodactyly fifth finger; no scoliosis; no hip dysplasia; no foot deformity; nail dystrophy; no thin temporal hair (infancy); no hypertrichosis; persistent fetal finger pads; intellectual disability; muscular hypotonia; feeding difficulties; no seizures; atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; no renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no autoimmunity; no pulmonary infections; no frequent upper airway infections; no recurrent otitis media in infancy; no immunodeficiency; no tumor; no leukemia; neonatal hypoglycemia; isolated persistent left superior vena cava, hyperinsulinism KDM6A KDM6A 1 1 Nina Bögershausen
00073332 P219 PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - M no France ? - 0 - - KABUK2 small for gestational age; short stature; microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; no long, thick eyelashes; blue sclerae; no arched eyebrows; lateral sparseness eyebrows; no depressed nasal tip; short columella; downslanting corners mouth; strabismus; no cleft palate; high arched palate; micrognathia; no selective tooth agenesis; brachydactyly of the fifth finger; no clinodactyly fifth finger; no scoliosis; no hip dysplasia; joint laxity; no nail dystrophy; no thin temporal hair (infancy); no hypertrichosis; persistent fetal finger pads; intellectual disability; muscular hypotonia; feeding difficulties; no seizures; no hearing loss; no atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; autoimmunity; no pulmonary infections; no frequent upper airway infections; no recurrent otitis media in infancy; no immunodeficiency; no tumor; no leukemia; neonatal hypoglycemia; no obesity; autoimmunity suspected due to vitiligo KDM6A KDM6A 1 1 Nina Bögershausen
00073333 P220 PubMed: Bögershausen 2016, Journal: Bögershausen 2016 - F no Turkey Turkish - 0 - - KABUK2 small for gestational age; short stature; microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; long, thick eyelashes; blue sclerae; no arched eyebrows; no lateral sparseness eyebrows; depressed nasal tip; short columella; no downslanting corners mouth; no cataracts; strabismus; no cleft palate; high arched palate; micrognathia; no selective tooth agenesis; no oligodontia; no supernumerary teeth; no dental crowding; no malocclusion; no dental caries; no prominent upper incisors; no brachydactyly of the fifth finger; clinodactyly fifth finger; no scoliosis; no hip dysplasia; joint laxity; foot deformity; no nail dystrophy; no thin temporal hair (infancy); hypertrichosis; persistent fetal finger pads; intellectual disability; muscular hypotonia; feeding difficulties; no seizures; no structural brain anomaly; no hearing loss; no atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; no renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no autoimmunity; no pulmonary infections; no frequent upper airway infections; recurrent otitis media in infancy; no immunodeficiency; no tumor; no leukemia; no neonatal hypoglycemia; no obesity; no precocious puberty; no premature thelarche; mild unilateral ptosis, bilateral simian crease, hyperactivity, hand‐flapping, bruxism KDM6A KDM6A 1 1 Nina Bögershausen
00073549 - PubMed: Paderova 2016, Journal: Paderova 2016 - F no Czech Republic - - 0 - - KABUK2 Kabuki syndrome?, see paper; ... - - 1 1 Johan den Dunnen
00295634 1362074_1466 - - M no Iran - 07y 0 - - KABUK2 - - KDM6A 1 1 Ehsan Jafarinia
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