All individuals with variants in gene BCOR

64 entries on 1 page. Showing entries 1 - 64.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 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 - - - - - 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) 5 1 Yu Sun
00002444 19377101-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00002445 19377102-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 167 Lucy Raymond
00002446 19377103-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00002447 19377104-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 14 Lucy Raymond
00002448 19377105-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00002449 19377106-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00002450 - - radioculomegaly F no Japan - - - - - MCOPS2 - 2 1 Surapornsawasd Thunyaporn
00002451 - - radioculomegaly F no Japan - - - - - MCOPS2 - 1 1 Surapornsawasd Thunyaporn
00050618 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected mother/child F - United Kingdom (Great Britain) - - - Decipher - ? congenital cataract, 1-2 toe syndactyly, 4-5 finger syndactyly, abnormality of the cardiac septa, high forehead, anteverted nares, abnormality of the nasal bridge, microphthalmos, delayed eruption of teeth, agenesis of permanent maxillary lateral incisor, delayed eruption of primary teeth, delayed eruption of permanent teeth, agenesis of permanent teeth, hypodontia 1 2 Johan den Dunnen
00150169 26539891-FamBAB6228 PubMed: Karaca 2015 - - - - - - - family structure in paper - ? intellectual diability, cortical atrophy, CCA, microphthalmia, ASD 1 2 Johan den Dunnen
00181202 - - - M no - - - - - - - - 1 1 Karine Poirier
00305961 - - - F - - - - - - - ? 2-3 toe syndactyly (HP:0004691); Atrial septal defect (HP:0001631); Congestive heart failure (HP:0001635); Cataract (HP:0000518) 1 1 IMGAG
00307140 Patient 03 PubMed: Mendonca 2021 - F no Brazil - - - - - RB1 Unilateral 2 1 Vanessa Mendonça
00307145 Patient 21 PubMed: Mendonca 2021 - M no Brazil - - - - - RB1 Unilateral 1 1 Vanessa Mendonça
00307250 Patient 37 PubMed: Mendonca 2021 - M - Brazil - - - - - RB1 Unilateral 1 1 Vanessa Mendonça
00307260 Patient 75 PubMed: Mendonca 2021 - F - Brazil - - - - - RB1 Unilateral 1 1 Vanessa Mendonça
00314872 Trio35 PubMed: Zhu 2015 - M - United States - - - - - ? Global developmental delays with no speech, gastroschisis, neonatal sigmoid venous sinus thrombosis, aqueductal stenosis causing hydrocephalus and shunt placement, abnormal optic nerves, hypopituitarism, myopia, femoral retroversion, behavior problems, dysmorphic. 1 1 Johan den Dunnen
00315032 GDB1430 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - - - - ? - 1 1 Johan den Dunnen
00315046 GDB1428 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - - - - ? - 1 1 Johan den Dunnen
00385460 14011092 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00396455 15013751 PubMed: Ellingford 2017 - - - United Kingdom (Great Britain) - - - - - CTRCT - 1 1 Johan den Dunnen
00418596 Fam2PatIII1 PubMed: Bertoli-Avella 2022 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Bahrain Syria - - - - CF failure to thrive; prominent forehead, upslanting palpebral fissures, thin upper lips; normal motor development; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; chronic coughing, pneumonia, hyperactive airway disease; no immunological abnormalities; acute gastroenteritis , vomiting, severe gastroesophag eal reflux, chronic diarrhea; no cardiovascular abnormalities 1 1 Johan den Dunnen
00427684 - - - F ? Russian Federation - - - - - Healthy/Control - 1 1 Viktoriia Zabnenkova
00434215 Fam36PatI PubMed: Jackson 2020 - F - United Kingdom (Great Britain) white - - - - ? developmental cataract; unilateral microphthalmos; congenital aphakia; iris cyst; subconjunctival hemorrhage; band keratopathy 1 1 Johan den Dunnen
00444344 FamPat9 PubMed: Li 2018 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - CTRCT total cataract, microphthalmia, microcornea; hypodontia 1 1 Johan den Dunnen
00444863 Fam3 PubMed: Fan 2020 2-generation family, affected mother/sib - - China - - - - - CTRCT binocular, OS-all white, OD-dot-like 1 2 Johan den Dunnen
00444891 Fam7PatII3 PubMed: Ma 2016 2-generation family, 1 affected, unaffected parents F - Australia - - - - - CTRCT see paper; ..., right microphthalmia, bilateral cataract 1 1 Johan den Dunnen
00444900 Fam17PatII1 PubMed: Ma 2016 2-generation family, 1 affected, unaffected parents F - Australia - - - - - CTRCT see paper; ..., bilateral cataract, 7y-L retinal detachment 1 1 Johan den Dunnen
00444927 Fam44PatII1 PubMed: Ma 2016 2-generation family, 1 affected, unaffected parents F - Australia - - - - - CTRCT see paper; ..., bilateral cataract, visual acuity R6/35, L 6/30; congenital cleft palate, atrial septal defect 1 1 Johan den Dunnen
00445033 CC0000850 PubMed: Kessel 2021 patient - - Denmark - - - - - CTRCT bilateral cataract 1 1 Johan den Dunnen
00445097 Fam15PatII1 PubMed: Reichsteiner 2021 2-generation family, 1 affected, unaffected non-carrier parents F - Switzerland - - - - - CTRCT nuclear cataract; atrial septal defect, ventricular septal defect; patent foramen oval, bilateral 2nd-3rd toe syndactyly, simian crease, secondary microcephaly, central hypothyreosis; aphakic glaucoma 1 1 Johan den Dunnen
00445098 FamV;Fam16PatII1 PubMed: Hilton 2009, PubMed: Reichsteiner 2021 2-generation family, affected mother/daughter F - Switzerland - - - - - CTRCT total cataract; microphthalmia; bilateral cutaneous 2/3 toe syndactyly; long narrow face, septate nasal cartilage, high nasal bridge; atrial septal defect, tricuspid valve insufficiency; persistant primary teeth, unerupted secondary teeth, root radiculomegaly; no aphakic glaucoma; hammer toes, radioulnar synostosis, lumbar scoliosis 1 2 Johan den Dunnen
00445106 FamIPat1 PubMed: McGovern 2006, PubMed: Hilton 2009 2-generation family, affected mother/daughter - - - - - - - - ? see paper; ..., congenital cataract, ptosis; septate nasal cartilage; heart murmur; unerupted secondary teeth, root radiculomegaly, hypodontia; hammer toes, radioulnar synostosis 1 2 Johan den Dunnen
00445107 FamIPat2 PubMed: McGovern 2006, PubMed: Hilton 2009 daughter - - - - - - - - ? see paper; ..., congenital cataract, microphthalmia, lens dislocation, optic disc dysplasia; septate nasal cartilage, high nasal bridge; atrial septal defect, ventricular septal defect, pulmonary valve stenosis; no tooth anomalies;; poor feeding 1 1 Johan den Dunnen
00445108 FamIIPat1 PubMed: Hilton 2009 patient - - - - - - - - ? congenital cataract, microphthalmia; septate nasal cartilage; ventricular septal defect, patent ductus arteriosus, mitral valve insufficiency, dextrocardia; persistant primary teeth, unerupted secondary teeth, root radiculomegaly, hypodontia; hammer toes; hearing impairment 1 1 Johan den Dunnen
00445109 FamIIIPat1/2/3/4/5/6 PubMed: Hilton 2007, PubMed: Hilton 2009 family, 6 affected - - - - - - - - ? see paper; ..., 69y/65y/43y/40y/21y/4y; congenital cataract, microphthalmia, glaucoma (2, 4), phthisis bulbi (1); septate nasal cartilage (1, 3, 4, 5); cleft palate (6), not affected (2); atrial septal defect (6), ventricular septal defect (6), double outlet right ventricle (6), not recorded (1, 2, 3, 4, 5); delayed primary dentition (6), persistent primary teeth (1, 3, 5), unerupted secondary teeth (1, 2, 3, 4, 5), root radiculomegaly (1, 2, 3, 5), hypodontia (5); hammer toes (1, 2, 4, 5), second-third toe syndactyly (3, 6), radioulnar synostosis (4, 6); mental retardation (6), asplenia (6) 1 6 Johan den Dunnen
00445110 FamIVPat1/2 PubMed: Hilton 2009 family, 2 affected - - - - - - - - ? 37y/11y; congenital cataract, microphthalmia, microcornea, iris synechia (1); septate nasal cartilage, high nasal bridge long/narrow face (1), high arched palate (2); aortic valve stenosis (1), not affected (2); persistant primary teeth, unerupted secondary teeth, root radiculomegaly, hypodontia, fusion of teeth (1), duplicated teeth (2); hammer toes (1), second-third toe syndactyly lordosis; mild mental retardation (2), hearing impairment, vomiting/reflux 1 2 Johan den Dunnen
00445111 FamVIPat1/2/3/4 PubMed: Hilton 2009 family, 4 affected - - - - - - - - ? 70y/41y/40y/10y; congenital cataract, microphthalmia (2, 4), iris synechia (2); septate nasal cartilage (2, 4), submucosal cleft palate (4), bifid uvula (4), not recorded (1, 3); atrial septal defect (4), not affected (2, 3), not recorded (1); persistent primary teeth (2, 4), unerupted secondary teeth (2, 4), root radiculomegaly (4), hypodontia (2, 4), fusion of teeth (4), duplicated teeth (2, 4), not recorded (1, 3); not recorded (1, 3), hammer toes (2), second-third toe syndactyly (2), scoliosis (4); hearing impairment (1) 1 4 Johan den Dunnen
00445112 FamVIIPat1 PubMed: Hilton 2009 patient - - - - - - - - ? congenital cataract, microphthalmia; persistent primary teeth; second-third toe syndactyly 1 1 Johan den Dunnen
00445113 FamVIIIPat1 PubMed: Hilton 2009 patient - - - - - - - - ? congenital cataract, microcornea; septate nasal cartilage, high nasal bridge, submucosal cleft palate; pentalogy of Fallot; delayed dentition, root radiculomegaly, hypodontia; second-third toe syndactyly, radioulnar synostosis; mild mental retardation, vesicoureteral reflux 1 1 Johan den Dunnen
00445114 FamIXPat1 PubMed: Hilton 2009 patient - - - - - - - - ? congenital cataract, microphthalmia, microcornea; septate nasal cartilage, cleft palate; atrial septal defect; persistent primary teeth, unerupted secondary teeth, root radiculomegaly hyp,odontia; hammer toes, bilateral radioulnar synostosis 1 1 Johan den Dunnen
00445115 FamXPat1 PubMed: Hilton 2009 patient - - - - - - - - ? congenital cataract, microphthalmia, microcornea; septate nasal cartilage, high nasal bridge, submucosal cleft palate; atrial septal defect; delayed primary dentition; hammer toes; mild mental retardation 1 1 Johan den Dunnen
00445116 FamXIPat1/2 PubMed: Hilton 2009 family, 2 affected - - - - - - - - ? 42y/13y; congenital cataract, microphthalmia, glaucoma (1), retinal detachment (1); septate nasal cartilage, long/narrow face (1), simple ears (2); atrial septal defect, ventricular septal defect, patent ductus arteriosus, tricuspid valve insufficiency (2); root radiculomegaly, hypodontia; hammer toes (2), short fingers (1); cerebral atrophy (2), attention deficit hyperactivity disorder (2) 1 2 Johan den Dunnen
00445117 FamXIIPat1 PubMed: Hilton 2009 patient - - - - - - - - ? congenital cataract, glaucoma; septate nasal cartilage, high arched palate; atrial septal defect; root radiculomegaly; hammer toes, second-third toe syndactyl ; mild mental retardation 1 1 Johan den Dunnen
00445118 FamXIIIPat1 PubMed: Hilton 2009 patient - - - - - - - - ? congenital cataract; atrial septal defect; delayed primary dentition; hammer toes, second-third toe syndactyly; hearing impairment 1 1 Johan den Dunnen
00445119 FamXIVPat1 PubMed: Hilton 2009 patient - - - - - - - - ? congenital cataract, microphthalmia, coloboma; septate nasal cartilage, simple ears; atrial septal defect, ventricular septal defect; primary dentition unaffected; second-third toe syndactyly, limited supination at wrist, partial fusion of vertebrae (c2-c3) 1 1 Johan den Dunnen
00445120 FamXVPat1 PubMed: Hilton 2009 patient - - - - - - - - ? congenital cataract, microphthalmia; atrial septal defect; primary dentition unaffected 1 1 Johan den Dunnen
00445121 FamXVIPat1/2/3 PubMed: Hilton 2009 2-generation family, 3 affected (2 twin sisters, daughter of XVI1) - - - - - - - - ? 27y/27y/1y6m; congenital cataract, microphthalmia; septate nasal cartilage (1, 2), high nasal bridge (1, 2), long/narrow face (1, 2), not affected (3); atrial septal defect (3), ventricular septal defect (1), not affected (2); delayed primary dentition (3), delayed dentition (1, 2), persistent primary teeth (1, 2), root radiculomegaly (1, 2); second-third toe syndactyly, radioulnar synostosis (2), scoliosis (2) 1 3 Johan den Dunnen
00445122 FamXVIIPat1/2 PubMed: Hilton 2009 2-generation family, 1 affected, asymptomatic mother XVII1 - - - - - - - - ? 33y/1y2m; congenital cataract (2), microcornea (2), not affected (1); septate nasal cartilage (2), long/narrow face (2), not affected (1); no cardiac anomalies; delayed primary dentition (2), not affected (1); second-third toe syndactyly (2), not affected (1) 1 2 Johan den Dunnen
00445123 FamXVIIIPat1 PubMed: Hilton 2009 patient - - - - - - - - ? congenital cataract, microphthalmia, ptosis; septate nasal cartilage, high nasal bridge, long/narrow face, cleft palate; atrial septal defect; root radiculomegaly, hypodontia; second-third toe syndactyly, limited supination 1 1 Johan den Dunnen
00445124 FamXIXPat1 PubMed: Hilton 2009 patient - - - - - - - - ? congenital cataract, microphthalmia ptosis; septate nasal cartilage ,high nasal bridge ,long/narrow face ,simple ears; not cardiac anomalies delayed dentition ,root radiculomegaly ,hypodontia ,fusion of teeth; nmild mental retardation , 1 1 Johan den Dunnen
00445125 FamXXPat1 PubMed: Hilton 2009 patient - - - - - - - - ? congenital cataract; septate nasal cartilage, high nasal bridge, long/narrow face; no cardiac anomalies; delayed dentitio,n persistent primary teeth, root radiculomegaly, hypodontia; hammer toes second-third toe syndactyly, scoliosis 1 1 Johan den Dunnen
00445126 FamXXIPat1 PubMed: Hilton 2009 patient - - - - - - - - ? congenital cataract, microphthalmia; atrial septal defec 1 1 Johan den Dunnen
00445127 FamLenzIPat1 PubMed: Hilton 2009 patient - - - - - - - - ? microphthalmia; narrow forehead, simple ears; atrial septal defect; multiple partial finger syndactyly, fifth finger clinodactyly, radioulnar synostosis; mental retardation, hypospadias 1 1 Johan den Dunnen
00446431 Fam14Pat44 PubMed: Liu 2023 2-generation family, affected mother/daughter F - China - - - - - CTRCT bilateral congenital cataract 1 2 Johan den Dunnen
00446432 Fam14Pat46 PubMed: Liu 2023 mother F - China - - - - - CTRCT bilateral congenital cataract 1 1 Johan den Dunnen
00448208 Pat85 PubMed: Poli 2024 - F - Chile - - - - - ? cataracts; 2-3 toe syndactyly; immune system dysfunction (recurrent otitis media); precocious puberty; dysmorphic facial features 1 1 Johan den Dunnen
00453056 Pat12 PubMed: Rots 2024, Journal: Rots 2024 - F - - - - - - - NDD see paper; ... (very detailed phenotype descriptions) 1 1 Johan den Dunnen
00468442 Pat1 PubMed: Wang 2024 family F - China - - - - - CTRCT posterior polar/nuclear cataract; no symmetrical opacities; microphthalmia, microcornea, laterally curved eyebrow, camptodactyly of toe, teeth defects 1 2 Johan den Dunnen
00468443 Pat2 PubMed: Wang 2024 family F - China - - - - - CTRCT posterior polar/nuclear cataract; no symmetrical opacities; microphthalmia, microcornea, laterally curved eyebrow, camptodactyly of toe, cardiac defects, teeth defects 1 2 Johan den Dunnen
00468444 Pat3 PubMed: Wang 2024 patient, no family history F - China - - - - - CTRCT cortical/nuclear cataract; no symmetrical opacities; scoliosis, microphthalmia, microcornea, laterally curved eyebrow, camptodactyly of toe, cardiac defects, teeth defects, retinitis pigmentosa 1 1 Johan den Dunnen
00468445 Pat4 PubMed: Wang 2024 family F - China - - - - - CTRCT nuclear/posterior polar cataract; no symmetrical opacities; microphthalmia, root radiculomegaly, cardiac defects 1 2 Johan den Dunnen
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