All individuals with variants in gene KDM6A

69 entries on 1 page. Showing entries 1 - 69.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 3 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 4 1 Yu Sun
00050430 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? global developmental delay, optic atrophy, recurrent urinary tract infections, natal tooth, 2-3 finger syndactyly, delayed cns myelination, high palate, coarse hair, neonatal hypotonia, cryptorchidism 1 1 Johan den Dunnen
00050623 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? feeding difficulties in infancy, decreased fetal movement, open mouth, myopathic facies, high narrow palate, long eyelashes, overlapping toe, muscular hypotonia, downslanted palpebral fissures, convex nasal ridge, narrow nasal ridge, congenital nystagmus, esotropia 1 1 Johan den Dunnen
00073308 19377200-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - KABUK2 mental retardation 1 29 Lucy Raymond
00073309 19377201-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - KABUK2 mental retardation 1 27 Lucy Raymond
00073310 - PubMed: Miyake 2013 - M no Japan - - 0 - - KABUK2 see paper 1 1 Noriko Miyake
00073311 - PubMed: Miyake 2013 - M - - - - 0 - - KABUK2 - 1 1 Noriko Miyake
00073312 - PubMed: Miyake 2013 - F no Japan - - 0 - - KABUK2 see paper 1 1 Noriko Miyake
00073313 - author, submitted - - - - - - 0 - - KABUK2 - 1 1 Giuseppe Merla
00073314 - author, submitted - - - - - - 0 - - KABUK2 - 1 1 Giuseppe Merla
00073315 - author, submitted - - - - - - 0 - - KABUK2 - 1 1 Giuseppe Merla
00073316 - PubMed: Lederer 2012 - F no Belgium - - 0 - - KABUK2 see paper 1 1 Johan den Dunnen
00073317 - PubMed: Lederer 2012 - F no Belgium - - 0 - - KABUK2 see paper 1 1 Johan den Dunnen
00073318 - PubMed: Lederer 2012 - M no Italy - - 0 - - KABUK2 see paper 1 1 Johan den Dunnen
00073319 - PubMed: Miyake 2013 - F no Japan - - 0 - - KABUK2 see paper 1 1 Johan den Dunnen
00073320 - PubMed: Miyake 2013 - F no Japan - - 0 - - KABUK2 see paper 1 1 Johan den Dunnen
00073321 - - - M no Belgium Caucasian - 0 - - KABUK2 - 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 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 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 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 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 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 1 1 Nina Bögershausen
00073328 P215 PubMed: Bögershausen 2016, Journal: Bögershausen 2016 2-generation family, affected mother/son M no France ? - 0 - - KABUK2 - 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 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 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 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 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 1 1 Nina Bögershausen
00183673 27620904-Pat18 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - 0 - - ID - 1 1 Johan den Dunnen
00227946 - - - F - - - - 0 - - ? Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Intellectual disability, mild (HP:0001256) 1 1 IMGAG
00295634 1362074_1466 - - M no Iran - 07y 0 - - KABUK2 - 1 1 Ehsan Jafarinia
00311451 259011 PubMed: Faundes 2018 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00311452 265196 PubMed: Faundes 2018 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00311453 262277 PubMed: Faundes 2018 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00311454 276153 PubMed: Faundes 2018 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00311455 264818 PubMed: Faundes 2018 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00311505 263764 PubMed: Faundes 2018 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00311506 278734 PubMed: Faundes 2018 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00311507 272119 PubMed: Faundes 2018 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00311508 276420 PubMed: Faundes 2018 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00314990 GDB1363 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - 0 - - ? - 1 1 Johan den Dunnen
00319860 DGAP100 PubMed: Lindgren 2013 - F - United States - - 0 - - ? see paper; ..., intellectual disability, short stature, cleft palate, seizures 2 1 Johan den Dunnen
00319865 BCH5562 PubMed: Lindgren 2013 - - - United States - - 0 - - ? autism spectrum disorder 1 1 Johan den Dunnen
00319866 DECIPHER4479 PubMed: Lindgren 2013 - F - United Kingdom (Great Britain) - - 0 - - ? short stature, microcephaly, cleft palate, intellectual disability, seizures 1 1 Johan den Dunnen
00319867 DECIPHER130 PubMed: Lindgren 2013 - F - United Kingdom (Great Britain) - - 0 - - ? short stature, small for gestational age, hypoglycinemia 1 1 Johan den Dunnen
00319868 DECIPHER254319 PubMed: Lindgren 2013 - M - United Kingdom (Great Britain) - - 0 - - ? intellectual disability, developmental delay, obesity 1 1 Johan den Dunnen
00319869 SG55459 PubMed: Lindgren 2013 - F - United States - - 0 - - ? developmental delay, macrocephaly, seizures 1 1 Johan den Dunnen
00319870 SG44724 PubMed: Lindgren 2013 - M - United States - - 0 - - ? encephalopathy, epilepsy, developmental delay 1 1 Johan den Dunnen
00319871 SG9651 PubMed: Lindgren 2013 - F - United States - - 0 - - ? moderate global developmental delay (especially speech; only 10 word vocabulary), constipation, dysmorphic features: wide-set and downslanting eyes, epicanthal folds and bushy eyebrows, low set ears over folded helices, short nose with anteverted nares and a prominent columella, long upper lip and pointy chin, bilateral fifth finger clinodactyly but normal palmar creases, very flat feet 1 1 Johan den Dunnen
00319872 SG57940 PubMed: Lindgren 2013 - F - United States - - 0 - - ? developmental delay, dysmorphic features 1 1 Johan den Dunnen
00319873 BCH5561 PubMed: Lindgren 2013 - - - United States - - 0 - - ? autism spectrum disorder 1 1 Johan den Dunnen
00319874 - PubMed: Yang 2016 - F - China - - 0 - - KABUK see paper; ... 1 1 Johan den Dunnen
00319875 - PubMed: Banka 2014 - - - - - - 0 - - KABUK see paper; ... 1 1 Johan den Dunnen
00319876 - PubMed: Micale 2014 - - - Italy - - 0 - - KABUK see paper; ... 1 1 Johan den Dunnen
00319877 - PubMed: Lederer 2014 3-generation family, 2 affected brothers, mother and maternal grandmother - - Belgium - - 0 - - KABUK see paper; ... 1 4 Johan den Dunnen
00319878 - PubMed: Micale 2014 - - - Italy - - 0 - - KABUK see paper; ... 1 1 Johan den Dunnen
00319879 - PubMed: Banka 2014 - - - - - - 0 - - KABUK see paper; ... 1 1 Johan den Dunnen
00319880 - PubMed: Morgan 2015 - - - Australia - - 0 - - KABUK see paper; ... 1 1 Johan den Dunnen
00319881 - PubMed: Micale 2014 - - - Italy - - 0 - - KABUK see paper; ... 1 1 Johan den Dunnen
00319882 - PubMed: Banka 2014 - - - - - - 0 - - KABUK see paper; ... 1 1 Johan den Dunnen
00319883 - PubMed: Banka 2014 - - - - - - 0 - - KABUK see paper; ... 1 1 Johan den Dunnen
00319884 - PubMed: Van Laarhoven 2015 - - - United States - - 0 - - KABUK see paper; ... 1 1 Johan den Dunnen
00319885 - PubMed: Cheon 2014 - - - Korea - - 0 - - KABUK see paper; ... 1 1 Johan den Dunnen
00319886 - PubMed: Banka 2014 - - - - - - 0 - - KABUK see paper; ... 1 1 Johan den Dunnen
00319887 - PubMed: Banka 2014 - - - - - - 0 - - KABUK see paper; ... 1 1 Johan den Dunnen
00319888 - PubMed: Banka 2014 - - - - - - 0 - - KABUK see paper; ... 1 1 Johan den Dunnen
00319889 - PubMed: Van Laarhoven 2015 - - - United States - - 0 - - KABUK see paper; ... 1 1 Johan den Dunnen
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