All individuals with variants in gene FOXE3

134 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00025007 - - - - - - - - - - - ? - 1 3 Daniel Kelberman
00025009 - - - - - - - - - - - ? Aphakia, primary Congenital corneal opacity 3 1 Daniel Kelberman
00064777 - PubMed: Semina 2001 2-generation family, affected mother and daugther F no United States - - - - - CTRCT primary phenotype congenital cataract, other eye anomalies include anterior segment dysgenesis, Peters anomaly 1 2 Deepti Anand
00064778 - PubMed: Semina 2001 90 controls and 161 cases - - United States - - - - - ? - 1 23 Deepti Anand
00064987 - PubMed: Semina 2001 90 controls and 161 cases - - United States - - - - - ? - 1 3 Deepti Anand
00064988 - PubMed: Semina 2001 90 controls and 161 cases - - United States - - - - - ? - 1 81 Deepti Anand
00064989 - PubMed: Semina 2001 90 controls and 161 cases - - United States - - - - - ? - 1 18 Deepti Anand
00064990 - PubMed: Semina 2001 90 controls and 161 cases - - United States - - - - - ? - 1 3 Deepti Anand
00064991 - PubMed: Ormestad 2002 - - no Sweden - - - - - CTRCT congenital cataract as primary phenotype, corneal opacity, Peters anomaly 1 1 Deepti Anand
00064992 - PubMed: Valleix 2006 3-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents F;M yes France - - - - - ASGD2 congenital primary aphasia as primary phenotype, aplasia of the anterior segment of the eye, iris absent, microphthalmia, retinal dysplasia 1 3 Deepti Anand
00064993 - PubMed: Iseri 2009, Journal: Iseri 2009 7-generation family, 6 affecteds (F, 5M), unaffected hetereozygous carrier parents F;M yes Pakistan - - - - - ASGD2 congenital primary aphasia, glaucoma, microcornea, Peters anomaly, sclerocornea 1 6 Deepti Anand
00064994 - PubMed: Iseri 2009, Journal: Iseri 2009 4-generation family, 3 affecteds (F, 2M), unaffected hetereozygous carrier parents F;M yes Pakistan - - - - - ASGD2 congenital primary aphakia, microphthalmia, corneal opacity, iris absent 1 3 Deepti Anand
00064995 - PubMed: Iseri 2009, Journal: Iseri 2009 2-generation family, 5 affecteds (4F, M) F;M - Pakistan - - - - - ASGD2 congenital cataract and primary aphasia, coloboma, microphthalmia, sclerocornea, Peters anomaly 1 5 Deepti Anand
00064996 - PubMed: Iseri 2009, Journal: Iseri 2009 2-generation family, 4 affecteds (3F, M) F;M - Pakistan - - - - - CTRCT congenital cataract, chorioretinal coloboma, microphthalmia, microcornea 1 4 Deepti Anand
00064997 - PubMed: Ali 2010 8-generation family, 7 affecteds (3F, 4M), unaffected heterozygous carrier parents/sibs F;M yes Pakistan - - - - - ASGD2 congenital primary aphasia, microphthalmia, sclerocornea 1 7 Deepti Anand
00064999 - PubMed: Ali 2010 6-generation family, 9 affecteds (4F, 5M), unaffected heterozygous carrier parents/sibs F;M yes Mexico Mexican, Tlaxcala - - - - ASGD2 congenital primary aphakia, microphthalmia, sclerocornea 1 9 Deepti Anand
00065000 - PubMed: Anjum 2010 6-generation family, 5 affecteds (5F), unaffected hetereozygous carrier parents/sibs F yes Pakistan - - - - - ASGD2 congenital primary aphakia 1 5 Deepti Anand
00065002 Pat4 PubMed: Brémond-Gignac 2010 - - - United States - - - - - CTRCT congenital cataract 1 1 Deepti Anand
00065003 - PubMed: Brémond-Gignac 2010 - - - United States - - - - - AN lens opacity, aniridia, corneal limbal insufficiency, nystagmus, severe axile myopia, posterior capsular reaction after lens surgery 1 1 Deepti Anand
00065004 - PubMed: Reis 2010, Journal: Reis 2010 - - no - white - - - - MCOP lens defects, microphthalmia and sclerocornea; absence of iris, lens and optic disc 2 1 Deepti Anand
00065005 - PubMed: Reis 2010, Journal: Reis 2010 - - - - white - - - - MCOP lens defects, microphthalmia and sclerocornea; absence of iris, lens and optic disc 1 1 Deepti Anand
00065007 - PubMed: Reis 2010, Journal: Reis 2010 - - - Bangladesh - - - - - MCOP aphakia, abnormal anterior segment of the eye, dysplastic irides, microphthalmia, sclerocornea 1 1 Deepti Anand
00065008 - PubMed: Reis 2010, Journal: Reis 2010 - - - - - - - - - MCOP aphakia, corneal opacity, glaucoma, microphthalmia 1 1 Deepti Anand
00065009 - PubMed: Reis 2010, Journal: Reis 2010 - - - - white - - - - MCOP absence of anterior segment, corneal opacity, coloboma, glaucoma, microphthalmia 1 1 Deepti Anand
00065010 - PubMed: Gillespie 2014 - - - - - - - - - CTRCT congenital cataract, vitreoretinal dysplasia, neurodevelopmental delay, joint laxity 1 1 Deepti Anand
00065011 FamMA143 PubMed: Ullah 2016 6-generation family, 6 affecteds (3F, 3M), unaffected hetereozygous carrier parents F;M yes Pakistan - - - - - ASGD2 congenital primary aphakia, anophthalmia, corneal opacity 1 6 Deepti Anand
00065013 FamMA119 PubMed: Ullah 2016 6-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carrier parents F;M yes Pakistan - - - - - ASGD2 see paper; ..., 1 4 Johan den Dunnen
00065014 - PubMed: Reis 2010, Journal: Reis 2010 682 controls - - - - - - - - - - 1 5 Johan den Dunnen
00065015 - PubMed: Reis 2010, Journal: Reis 2010 682 controls - - - - - - - - - - 1 1 Johan den Dunnen
00065016 - PubMed: Reis 2010, Journal: Reis 2010 682 controls - - - - - - - - - - 1 4 Johan den Dunnen
00065017 - PubMed: Reis 2010, Journal: Reis 2010 682 controls - - - - - - - - - - 1 3 Johan den Dunnen
00065018 - PubMed: Reis 2010, Journal: Reis 2010 682 controls - - - - - - - - - - 1 1 Johan den Dunnen
00065019 - PubMed: Reis 2010, Journal: Reis 2010 748 controls - - - - - - - - - - 1 6 Johan den Dunnen
00065020 - PubMed: Reis 2010, Journal: Reis 2010 748 controls - - - - - - - - - - 1 1 Johan den Dunnen
00065021 - PubMed: Reis 2010, Journal: Reis 2010 748 controls - - - - - - - - - - 1 233 Johan den Dunnen
00065022 - PubMed: Reis 2010, Journal: Reis 2010 748 controls - - - - - - - - - - 1 1 Johan den Dunnen
00065023 - PubMed: Reis 2010, Journal: Reis 2010 748 controls - - - - - - - - - - 1 5 Johan den Dunnen
00065024 - PubMed: Reis 2010, Journal: Reis 2010 748 controls - - - - - - - - - - 1 12 Johan den Dunnen
00065025 - PubMed: Reis 2010, Journal: Reis 2010 748 controls - - - - - - - - - - 1 1 Johan den Dunnen
00065026 - PubMed: Reis 2010, Journal: Reis 2010 748 controls - - - - - - - - - - 1 1 Johan den Dunnen
00065027 - PubMed: Reis 2010, Journal: Reis 2010 748 controls - - - - - - - - - - 1 1 Johan den Dunnen
00065028 - PubMed: Reis 2010, Journal: Reis 2010 748 controls - - - - - - - - - - 1 2 Johan den Dunnen
00164722 - - - M - (Germany) - - - - - ? HP:0001724 (Aortic dilatation) 1 1 IMGAG
00260859 Fam60039 PubMed: Chen 2017 2-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives F;M - - - - - - - CTRCT see paper; … 1 5 Johan den Dunnen
00382116 81 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - ASGD1 anterior segment developmental anomalies including glaucoma; MIM, 107250 1 1 LOVD
00384350 13860 PubMed: Wang 2019 - F - China - - - - - ? - 1 1 LOVD
00385466 15000185 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00385496 16017070 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00385525 17015864 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - retinal disease - 2 1 LOVD
00411261 198801 - - F yes Saudi Arabia - - - - - ASGD1 Visual impairment, Abnormal eye morphology, Congenital primary aphakia 1 1 Andreas Laner
00434075 Pat31 PubMed: Li 2016 - - - China - - - - - CTRCT bilateral total cataract 1 1 Johan den Dunnen
00434129 Fam1PatII1 PubMed: Li 2019 2-generation family, affected mother/son M - China - - - - - CTRCT see paper; ..., nuclear cataract, white opacities 2 2 Johan den Dunnen
00434190 WCC9PatII1 PubMed: Zhang 2018 2-generation family, 1 affected M - China - - - - - CTRCT - 1 1 Johan den Dunnen
00440084 MA102PatIV5 PubMed: Basharat 2023, Journal: Basharat 2023 4-generation family, 3 affected sibs (F, 2M), unaffected heterozygous parents/relatives M yes Pakistan Asia-S - - - - ? see paper; ... 1 3 Rabia Basharat
00440085 MA125PatIV2 PubMed: Basharat 2023, Journal: Basharat 2023 4-generation family, 3 affected (F, 2M), unaffected heterozygous parents/relatives M yes Pakistan Asia-S - - - - ? see paper; ..., anterior segment dysgenesis 1 3 Rabia Basharat
00440089 MA201PatIII3 PubMed: Basharat 2023, Journal: Basharat 2023 4-generation family, 4 affected (3F, M), unaffected heterozygous parents/relatives F yes Pakistan Asia-S - - - - ? see paper; ... 1 4 Rabia Basharat
00440090 MA203PatIV2 PubMed: Basharat 2023, Journal: Basharat 2023 4-generation family, 4 affected (F, 3M), unaffected heterozygous parents/relatives F yes Pakistan Asia-S - - - - ? see paper; ..., anterior segment dysgenesis 1 4 Rabia Basharat
00445009 Pat23 PubMed: Reis 2013 family, 3 affected - - United States - - - - - CTRCT early onset adult cataract (40s), retinal detachment 1 1 Johan den Dunnen
00453739 BAV162 PubMed: Mansoorshahi 2024 analysis 215 early-onset complications bicuspid aortic valve-affected families. - - United States - - - - - CHD mitral valve prolapse, root aneurysm 1 1 Johan den Dunnen
00468526 Pat1 PubMed: Bremond-Gignac 2010 patients - - France - - - - - CTRCT - 1 1 Johan den Dunnen
00468527 Pat2 PubMed: Bremond-Gignac 2010 2-generation family, 1 affected, unaffected parents (not available) - - France - - - - - CTRCT aniridia, corneal limbal insufficiency, nystagmus, severe axile myopia, mild lens opacities, fibrous posterior capsular reaction after lens surgery 1 1 Johan den Dunnen
00468529 family PubMed: Doucette 2011 4-generation family, 11 affected (3F, 8M) F;M - Canada - - - - - ASGD2 see paper; ..., anterior segment dysgenesis, Peters anomaly 1 11 Johan den Dunnen
00468530 family PubMed: Pantoja-Melendez 2013 several families, 17 affected, unaffected heterozygous carrier parents F;M - Mexico mestizo - - - - ? see paper; ..., sclerocornea, aphakia, microphthalmia; bilateral ocular malformation, absence of identifiable corneal structures, no anatomic limbal delimitation between cornea and sclera; no intellectual disability; no extraocular malformations; flat cornea, absent anterior chamber eye, keratomalacia, ectropion, increased intraocular pressure 1 17 Johan den Dunnen
00468558 Pat28 PubMed: Chassaing 2014 2-generation family, 1 affected, unaffected parents F - France - - - - - MCOP microphthalmia, sclerocornea; MRI brain normal; intellectual disability; 1 1 Johan den Dunnen
00468559 Pat29 PubMed: Chassaing 2014 2-generation family, 1 affected, unaffected parents F - France - - - - - MCOP microphthalmia, sclerocornea; MRI brain normal; no intellectual disability; polycystic ovarian syndrome 1 1 Johan den Dunnen
00468563 Pat1 PubMed: Islam 2015 2-generation family, 1 affected, unaffected carrier mother - yes United Kingdom (Great Britain) Pakistan - - - - ASGD2 see paper; ..., primary aphakia, bilateral congenital corneal opacity, glaucoma; iridocorneal adhesion 1 1 Johan den Dunnen
00468564 Pat2 PubMed: Islam 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents - yes United Kingdom (Great Britain) India - - - - ASGD2 see paper; ..., primary aphakia, bilateral congenital corneal opacity, glaucoma 1 1 Johan den Dunnen
00468565 Pat3 PubMed: Islam 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United Kingdom (Great Britain) - - - - - ASGD2 see paper; ..., primary aphakia, bilateral congenital corneal opacity, glaucoma 2 1 Johan den Dunnen
00468902 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00468903 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00469699 FamPKCC139 PubMed: Khan 2016 4-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents F;M yes Pakistan - - - - - ASGD2 see paper; ..., Peters anomaly, bilateral corneal opacities, developmental glaucoma, iris–retina coloboma (3/4), anterior segment dysgenesis, iridolenticular adhesions, nystagmus (3/4); no skeletal abnormalities, no physical disabilities, no cardiovascular diseases, no intellectual disability 1 4 Johan den Dunnen
00469700 FamPKCC009 PubMed: Khan 2016 4-generation family, 5 affected brother (3)/sisters (2), unaffected heterozygous carrier parents F;M yes Pakistan - - - - - CTRCT see paper; ..., isolated congenital cataracts 1 5 Johan den Dunnen
00469701 FamPKCC039 PubMed: Khan 2016 5-generation family, 7 affected brother (4)/sisters (3), unaffected heterozygous carrier parents F;M yes Pakistan - - - - - CTRCT see paper; ..., isolated congenital cataract 1 7 Johan den Dunnen
00469702 family PubMed: Saboo 2017 5-generation family, 3 affected (2F. M), unaffected heterozygous carrier parents F;M yes India - - - - - ASGD2 see paper; ..., severe bilateral ocular dysgenesis, unilateral staphylomatous malformation, complex microphthalmos, bilateral aphakia, unilateral anterior staphyloma 1 3 Johan den Dunnen
00469703 FamMA115 PubMed: Ullah 2016 6-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - ASGD2 see paper; ..., bilateral microphthalmia, corneal opacity, anterior segment dysgenesis 1 2 Johan den Dunnen
00469704 Pat1 PubMed: Plaisancie 2018 patient - - France - - - - - MCOP biilateral microphthalmia; Arnold-Chiari malformation 2 1 Johan den Dunnen
00469705 Pat2 PubMed: Plaisancie 2018 patient - - France - - - - - MCOP left microphthalmia, left sclerocornea, right Peters’ anomaly 2 1 Johan den Dunnen
00469706 Pat3 PubMed: Plaisancie 2018 patient - - France - - - - - MCOP unilateral microphthalmia, bilateral sclerocornea 2 1 Johan den Dunnen
00469707 Fam1 PubMed: Plaisancie 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F;M - France - - - - - MCOP biilateral complex microphthalmia, sclerocornea; global developmental delay; ventricular septal defect 1 2 Johan den Dunnen
00469708 Fam2 PubMed: Plaisancie 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F;M - France - - - - - MCOP bilateral complex microphthalmia, sclerocornea 1 2 Johan den Dunnen
00469709 patient PubMed: Garcia-Montalvo 2014 patient - - Mexico - - - - - MCOP bilateral microphthalmia, sclerocornea 1 1 Johan den Dunnen
00469710 patients PubMed: Garcia-Montalvo 2014 - - - Mexico - - - - - MCOP microphthalmia-anophthalmia-coloboma 1 5 Johan den Dunnen
00469713 Pat1 PubMed: Quiroz-Casian 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Mexico - - - - - MCOP see paper; ..., bilateral total sclerocornea, aphakia, microphthalmia; right total corneal opacity, flat cornea 1 1 Johan den Dunnen
00469714 Pat2 PubMed: Quiroz-Casian 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Mexico - - - - - MCOP see paper; ..., bilateral total sclerocornea; bilateral poor visual acuity (light perception) 2 1 Johan den Dunnen
00469939 Fam18PatII1 PubMed: Thanikachalam 2020 2-generation family, 1 affected, unaffected parents M - United States white;Hispanic - - - - ASGD see paper; ..., bilateral Peters anomaly 1 1 Johan den Dunnen
00469943 Pat13 PubMed: Taha Najim 2020 2-generation family, unaffected heterozygous carrier parents F - Sweden - - - - - MCOP see paper; ..., isolated microphthalmia/anophthalmia 2 1 Johan den Dunnen
00469989 GCUF06 PubMed: Rashid 2020 4-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - ASGD see paper; ..., congenital anterior segment dysgenesis, keratoconus, congenital bilateral corneal haze, microphthalmia 1 5 Johan den Dunnen
00469991 FamPatIV9 PubMed: Akbar 2024 4-generation family, 6 affected (3F, 3M), , unaffected heterozygous carrier parents/relatives M - Pakistan - - - - - MCOP see paper; ..., bilateral anophthalmia; no vision sense, no hearing loss, normal development 1 6 Johan den Dunnen
00469992 FamPatIV11 PubMed: Akbar 2024 sister F - Pakistan - - - - - MCOP see paper; ..., bilateral anophthalmia; normal vision, no hearing loss, normal development; no facial dysmorphism; normall limbs, normal joints 1 1 Johan den Dunnen
00469993 FamPatIV12 PubMed: Akbar 2024 sister F - Pakistan - - - - - MCOP see paper; ..., 1d-bilateral anophthalmia; normal development, no facial dysmorphism, normal skin, normal limbs 1 1 Johan den Dunnen
00469994 FamPatIV14 PubMed: Akbar 2024 brother M - Pakistan - - - - - MCOP, SPG see paper; ..., 1d-bilateral anophthalmia, small palpable fissures, no vision, hearing loss; global developmental delay; aphasia, unable to carry out routine activities 1 1 Johan den Dunnen
00469995 FamPatIV15 PubMed: Akbar 2024 sister F - Pakistan - - - - - MCOP see paper; ..., 1d- bilateral anophthalmia; global developmental delay; nutritional anemia, recurrent chest infections; microcephaly; hearing loss, aphasia, irritable, emaciated look, hyper pigmented, normal limbs, no contractures, no facial dysmorphisms, no asymmetry, no scar marks 1 1 Johan den Dunnen
00469996 FamPatIV2 PubMed: Akbar 2024 cousin M - Pakistan - - - - - MCOP see paper; ..., 1d-vision impairment; developmentally delay, behavioral issues, hearing loss; 7y-no stand without support, no speech 1 1 Johan den Dunnen
00470031 FamEEPat40 PubMed: Lecca 2024 5-generation family, 3 affected (2F, M) F - Italy - - - - - SPG see paper; ..., non-syndromic, bilateral anterior cataract 1 1 Johan den Dunnen
00470108 Fam1 PubMed: Reis 2021 family, 1 affected M - India Asia-S - - - - ? see paper; ..., severe microphthalmia; severe corneal opacity, microcornea; optic nerve coloboma 1 1 Johan den Dunnen
00470109 Fam2PatA PubMed: Reis 2021 family, 3 affected M yes Pakistan Asia-S - - - - ? see paper; ..., microphthalmia; sclerocornea; nystagmus 1 3 Johan den Dunnen
00470110 Fam2PatB PubMed: Reis 2021 sib M yes Pakistan Asia-S - - - - ? see paper; ..., microphthalmia; sclerocornea; nystagmus 1 1 Johan den Dunnen
00470111 Fam2PatC PubMed: Reis 2021 paternal cousin M yes Pakistan Asia-S - - - - ? see paper; ..., microphthalmia; sclerocornea; nystagmus 1 1 Johan den Dunnen
00470112 Fam3 PubMed: Reis 2021 family, 1 affected M - India Asia-S - - - - ? see paper; ..., left microphthalmia; corneal opacity, microcornea; primary aphakia; iris hypoplasia, iridocorneal adhesions; congenital glaucoma 1 1 Johan den Dunnen
00470113 Fam4 PubMed: Reis 2021 family, 1 affected F - - white;Asia - - - - ? see paper; ..., microphthalmia (L>R); complete corneal opacity, left microcornea; right primary aphakia, left lens remnant attached to cornea; no view; congenital glaucoma 2 1 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.