All individuals with variants in gene FZD4

137 entries on 2 pages. Showing entries 1 - 100.
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00106554 17093393-Fam3 PubMed: Nallathambi 2006 3-generation family, 1 affected M no India - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR), see paper; ... 1 1 Johan den Dunnen
00106555 - PubMed: Nikopoulos 2010 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Frans Cremers
00106556 - Toomes 2004b - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Johan den Dunnen
00106557 - Kondo 2003 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Johan den Dunnen
00106558 - Boonstra 2009 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Johan den Dunnen
00106559 - PubMed: Nikopoulos 2010 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Frans Cremers
00106560 - Muller 2008 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Johan den Dunnen
00106561 - Boonstra 2009 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Johan den Dunnen
00106562 - Toomes 2004b - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Johan den Dunnen
00106563 12172548-Fam2 PubMed: Robitaille 2002, Journal: Robitaille 2002 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Johan den Dunnen
00106564 - Toomes 2004b - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Johan den Dunnen
00106565 - Toomes 2004b - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Johan den Dunnen
00106566 - Toomes 2004b - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Johan den Dunnen
00106567 - PubMed: Nikopoulos 2010 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Frans Cremers
00106568 - Kondo 2003 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Johan den Dunnen
00106569 - Toomes 2004b - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Johan den Dunnen
00106570 - Robitaille 2009 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Johan den Dunnen
00106571 - Toomes 2004b - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Johan den Dunnen
00106572 - Omoto 2004 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Johan den Dunnen
00106573 - Ells 2010 - - - - - - 0 - - ROP retinopathy of prematurity (ROP) 1 1 Johan den Dunnen
00106574 - PubMed: Nikopoulos 2010 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Frans Cremers
00106575 17093393-Fam2 PubMed: Nallathambi 2006 4-generation family, 5 affecteds (5M) M no India - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR), see paper; ... 1 5 Johan den Dunnen
00106576 - Boonstra 2009 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Johan den Dunnen
00106577 - MacDonald 2005 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Johan den Dunnen
00106578 - Qin 2005 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Johan den Dunnen
00106579 - Yoshida 2004 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Johan den Dunnen
00106580 - Qin 2005 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Johan den Dunnen
00106581 - Ells 2010 - - - - - - 0 - - ROP retinopathy of prematurity (ROP) 1 1 Johan den Dunnen
00106582 - Kondo 2003 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Johan den Dunnen
00106583 - Boonstra 2009 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Johan den Dunnen
00106584 - Kondo 2003 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Johan den Dunnen
00106585 - Muller 2008 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Johan den Dunnen
00106586 - Toomes 2004b - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Johan den Dunnen
00106587 - PubMed: Nikopoulos 2010 - - - - - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 1 Frans Cremers
00106588 12172548-Fam PubMed: Robitaille 2002, Journal: Robitaille 2002 3-generation family, 29 affecteds (16F, 13M) F;M no Canada British - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR) 1 29 Johan den Dunnen
00106590 17093393-Fam1 PubMed: Nallathambi 2006 4-generation family, affected father/son M yes India - - 0 - - EVR;FEVR familial exudative vitreoretinopathy (FEVR), see paper; ... 1 2 Johan den Dunnen
00265202 FamAPatient 1 (son) PubMed: Tian 2019 2-generation family, affected father/son M ? China - 04y 0 yes - EVR;FEVR Retinal detachment HP:0000541 1 2 Dimitra Ilektra Lerou
00265204 FamAPat2 (father) PubMed: Tian 2019 affected father M ? China - ? 0 no - EVR;FEVR - 1 1 Dimitra Ilektra Lerou
00265205 FamBPat3 (son) PubMed: Tian 2019 2-generation family, affected father/son M ? China - 03y 0 yes - EVR;FEVR Falciform retinal fold HP:0001493 1 2 Dimitra Ilektra Lerou
00265206 FamB Patient 4 Tian 2019 (father) PubMed: Tian 2019 2-generation family, affected father/son M ? China - ? 0 - - EVR;FEVR - 1 1 Dimitra Ilektra Lerou
00265211 FamC Patient 5 Tian 2019 (son) PubMed: Tian 2019 2-generation family, affetced father/son M ? China - 03y 0 - - EVR;FEVR Norrie Disease with Choroidal Atrophy OMIM:310600 1 2 Dimitra Ilektra Lerou
00265241 FamC Patient 6 Tian 2019 (father) PubMed: Tian 2019 2-generation family,affected father/son M ? China - ? 0 - - EVR;FEVR - 1 1 Dimitra Ilektra Lerou
00265242 FamD Patient 7 Tian 2019 (son) PubMed: Tian 2019 2-generation family, affected father/son M ? China - 02y 0 yes - EVR;FEVR Retinal folds HP:0008052 1 2 Dimitra Ilektra Lerou
00265243 FamD Patient 8 Tian 2019 (father) PubMed: Tian 2019 2-generation family, affected father/son M ? China - ? 0 - - EVR;FEVR Peripheral retinal avascularization HP:0007685 1 1 Dimitra Ilektra Lerou
00265244 Patient 1 Montecinos-Contreras 2016 (son PubMed: Montecinos-Contreras 2016 2-generation family, affected mother/son M ? Mexico - 13y 0 yes - EVR1 Peripheral retinal avascularization HP:0007685 1 2 Dimitra Ilektra Lerou
00265246 Patient 2 Montecinos-Contreras 2016 (mother) PubMed: Montecinos-Contreras 2016 2-generation family, affected mother/son F ? Mexico - 53y 0 yes - EVR1 Peripheral retinal avascularization HP:0007685 1 1 Dimitra Ilektra Lerou
00265248 Patient 1 Khan 2016 PubMed: Khan 2016 2-generation family, unaffected parents/sisters, two affected brothers M ? United Arab Emirates - ? 0 - - EVR;FEVR Leukocoria HP:0000555 Retinal detachment HP:0000541 1 2 Dimitra Ilektra Lerou
00265249 Patient 2 Khan 2016 PubMed: Khan 2016 2-generation family, unaffected parents/sisters, two affected brothers M ? United Arab Emirates - ? 0 no - EVR;FEVR Leukocoria HP:0000555 Retinal detachment HP:0000541 1 1 Dimitra Ilektra Lerou
00265288 Patient 1 Yang 2018 (son) PubMed: Yang 2018 2-generation family, affected father/son M no China - 07y 0 yes - EVR;FEVR Peripheral retinal avascularization HP:0007685 Retinal fold HP:0008052 1 2 Dimitra Ilektra Lerou
00265289 Patient 2 Yang 2018 (father) PubMed: Yang 2018 2-generation family, affected father/son M ? China - 32y 0 yes - EVR;FEVR Peripheral retinal avascularization HP:0007685 Retinal fold HP:0008052 1 1 Dimitra Ilektra Lerou
00265291 3027001 PubMed: Fei 2015 - F no China Han 02y 0 yes - EVR;FEVR Retinal fold HP:0008052 Retinal detachment HP:0000541 Glaucoma HP:0000501 Cataract HP:0000518 1 1 Dimitra Ilektra Lerou
00265292 3060001 PubMed: Fei 2015 - F no China Han 03y 0 yes - EVR;FEVR Cataract HP:0000518 Vitreous hemorrhage HP:0007902 1 1 Dimitra Ilektra Lerou
00274215 Patient 1 Kondo 2009 PubMed: Kondo 2009 2-generation family, affected father/mother/daughter, father and mother asymptomatic F no Japan - 20y 0 - - EVR;FEVR Vitreoretinopathy HP:0007773 Leukocoria HP:0000555 Falciform retinal fold HP:0001493 Remnants of the hyaloid vascular system HP:0007968 Phthisis bulbi HP:0000667 Peripheral retinal avascularization HP:0007685 1 1 Dimitra Ilektra Lerou
00274222 Patient 1 Yoshida 2004 PubMed: Yoshida 2004 2-generation family, affected father/daughter F no Japan - 13y 0 - - EVR;FEVR Esotropia HP:0000565 Retinal detachment HP:0000541 Retinal hole HP:0011530 1 1 Dimitra Ilektra Lerou
00274320 E1 II:1 PubMed: Wu 2016 2 generation family, 2 affected (1 non-penetrant carrier) M no Taiwan - - 0 - - EVR1, EVR;FEVR exudative vitreoretinopathy (HP:0030490) 1 2 Jasmine Chen
00274321 E10 III:10 PubMed: Wu 2016 4 generation family, 5 affected (4 nonpenetrant carriers) F no Taiwan - - 0 - - EVR1, EVR;FEVR exudative vitreoretinopathy (HP:0030490) 1 5 Jasmine Chen
00274891 Patient 1 Iwata 2019 PubMed: Iwata 2019 sister of proband had FEVR in infancy and required photocoagulation M no Japan - 03y 0 - - EVR1 Peripheral retinal avascularization HP:0007685 Vitreous hemorrhage HP:0007902 Vitreomacular traction HP:0031151 1 1 Dimitra Ilektra Lerou
00275005 Patient 1 Bochicchio 2017 PubMed: Bochicchio 2017 - F no Italy Hispanic 28y 0 - - EVR1 Esotropia HP:0000565 Corneal opacity HP:0007957 Retinal neovascularization HP:0030666 2 1 Dimitra Ilektra Lerou
00275007 Patient 1 Mammo 2015 PubMed: Mammo 2015 - M no Taiwan - 00y08m 0 - - EVR1, SMA diagnosed with spinal muscular atrophy with SMN1 deletion, Leukocoria HP:0000555 Anterior chamber synechiae HP:0007833 Peripheral retinal avascularization HP:0007685 1 1 Dimitra Ilektra Lerou
00275439 Patient 1 Tang 2016 PubMed: Tang 2016 3-generation family, mutation-carrying grandfather, father and elder sister all asympotmatic M - China Southern Chinese 04y 0 - - EVR1 Retinal fold HP:0008052 Peripheral retinal avascularization HP:0007685 1 1 Dimitra Ilektra Lerou
00275442 Patient 2 Tang 2016 PubMed: Tang 2016 2-generation family, mutation-carrying mother and brother completely asymptomatic F no China Souther Chinese 14y 0 - - EVR1 Peripheral retinal avascularization HP:0007685 Retinal detachment HP:0000541 1 1 Dimitra Ilektra Lerou
00275444 Patient 3 Tang 2016 PubMed: Tang 2016 - M no China Southern Chinese 13y 0 - - EVR1 Retinal fold HP:0008052 1 1 Dimitra Ilektra Lerou
00275446 Patient 4 Tang 2016 PubMed: Tang 2016 mutation-carrying father and paternal uncle are clinically healthy with avascularity, mutation-carrying paternal aunt clinically healthy without any sign of retinopathy M no China Southern Chinese 11y 0 - - EVR1 Retinal detachment HP:0000541 Ectopic fovea HP:0025007 1 1 Dimitra Ilektra Lerou
00275448 Patient 5 Tang 2016 PubMed: Tang 2016 2-generation, affected but asymptomatic father M no China Southern Chinese 06y 0 - - EVR1 Ectopic fovea HP:0025007 Retinal fold HP:0008052 1 1 Dimitra Ilektra Lerou
00275450 Patient 6 Tang 2016 PubMed: Tang 2016 2-generation family, affected father/elder brother M no China Southern Chinese 08y 0 - - EVR1 Retinal fold HP:0008052 1 1 Dimitra Ilektra Lerou
00275451 Patient 7 Tang 2016 PubMed: Tang 2016 2-generation family, mutation-carrying mother/elder sister, elder sister asymptomatic F no China Southern Chinese 00y07m 0 - - EVR1 Retinal fold HP:0008052 1 1 Dimitra Ilektra Lerou
00275453 Patient 8 Tang 2016 PubMed: Tang 2016 2-generation family, mutation-carrying mother/sister both asymptomatic M no China Southern Chinese 08y 0 - - EVR1 Retinal fold HP:0008052 Peripheral retinal avascularization HP:0007685 Retinal neovascularization HP:0030666 1 1 Dimitra Ilektra Lerou
00275454 Patient 9 Tang 2016 PubMed: Tang 2016 - F no China Southern Chinese 26y 0 - - EVR1 Retinal neovascularization HP:0030666 Peripheral retinal avascularization HP:0007685 Vitreous hemorrhage HP:0007902 1 1 Dimitra Ilektra Lerou
00275455 Patient 10 Tang 2016 PubMed: Tang 2016 2-generation family, mother affected but asymptomatic F no China Southern Chinese 03y 0 - - EVR1 Retinal fold HP:0008052 1 1 Dimitra Ilektra Lerou
00275457 Patient 11 Tang 2016 PubMed: Tang 2016 - M no China Southern Chinese 08y 0 - - EVR1 Retinal fold HP:0008052 1 1 Dimitra Ilektra Lerou
00275458 Patient 12 Tang 2016 PubMed: Tang 2016 2-generation family, affected father/son M no China Southern Chinese 15y 0 - - EVR1 Ectopic fovea HP:0025007 1 1 Dimitra Ilektra Lerou
00275459 Patient 13 Tang 2016 PubMed: Tang 2016 - M no China Southern Chinese 12y 0 - - EVR1 Retinal fold HP:0008052 1 1 Dimitra Ilektra Lerou
00275460 Patient 14 Tang 2016 PubMed: Tang 2016 - M no China Southern Chinese 10y 0 - - EVR1 - 1 1 Dimitra Ilektra Lerou
00275462 Patient 15 Tang 2016 PubMed: Tang 2016 2-generation family, affected both children M no China Southern Chinese 10y 0 - - EVR1 - 1 1 Dimitra Ilektra Lerou
00275463 Patient 16 Tang 2016 PubMed: Tang 2016 2-generation family, affected father/mother and two sons M no China Southern Chinese 15y 0 - - EVR1 - 1 1 Dimitra Ilektra Lerou
00275464 Patient 17 Tang 2016 PubMed: Tang 2016 2-generation family, affected mother/son M no China Southern Chinese 05y 0 - - EVR1 - 1 1 Dimitra Ilektra Lerou
00275465 Patient 18 Tang 2016 PubMed: Tang 2016 2-generation family, affected mother/daughter F no China Southern Chinese 00y02m 0 - - EVR1 - 1 1 Dimitra Ilektra Lerou
00275466 Patient 19 Tang 2016 PubMed: Tang 2016 2-generation family, affected mother/son M no China Southern Chinese 02y 0 - - EVR1 - 1 1 Dimitra Ilektra Lerou
00275467 Patient 20 Tang 2016 PubMed: Tang 2016 2-generation family, affected mother/som M no China Southern Chinese 04y 0 - - EVR1 - 1 1 Dimitra Ilektra Lerou
00275468 Patient 21 Tang 2016 PubMed: Tang 2016 - M no China Southern Chinese 00y06m 0 - - EVR1 - 1 1 Dimitra Ilektra Lerou
00275469 Patient 1 Omoto 2004 PubMed: Omoto 2004 2-generation family, affected mother/daughter/son F no Japan - 06y 0 - - EVR;FEVR Peripheral retinal avascularization HP:0007685 Tractional retinal detachment HP:0007917 Falciform retinal fold HP:0001493 1 1 Dimitra Ilektra Lerou
00275470 Patient 2 Omoto 2004 PubMed: Omoto 2004 2-generation family, affected mother/daughter F no Japan - 01y01m 0 - - EVR1 Remnants of the hyaloid vascular system HP:0007968 Exotropia HP:0000577 Retinal fold HP:0008052 1 1 Dimitra Ilektra Lerou
00275471 Patient 1 MacDonald 2005 PubMed: MacDonald 2005 - ? no (United States) - ? 0 - - EVR1 - 2 1 Dimitra Ilektra Lerou
00275472 Patient 2 MacDonald 2005 PubMed: MacDonald 2005 - ? no (United States) - ? 0 - - ROP - 1 1 Dimitra Ilektra Lerou
00275476 Patient 1 Edwards 2012 PubMed: Edwards 2012 6-generation family, affected III:11, III:12, III:15, V:16 F no Australia English 75y 0 - - EVR;FEVR Retinal detachment HP:0000541 1 4 Dimitra Ilektra Lerou
00275478 Patient 2 Edwards 2012 PubMed: Edwards 2012 6-generation family, affected III:11, III:12, III:15, V:16 M no Australia English 78y 0 - - EVR;FEVR Retinal detachment HP:0000541 1 1 Dimitra Ilektra Lerou
00275479 Patient 3 Edwards 2012 PubMed: Edwards 2012 6-generation family, affected III:11, III:12, III:15, V:16 M no Australia English 62y 0 - - EVR;FEVR Retinal detachment HP:0000541 1 1 Dimitra Ilektra Lerou
00275480 Patient 4 Edwards 2012 PubMed: Edwards 2012 6-generation family, affected III:11, III:12, III:15, V:16 M no Australia English 13y 0 - - EVR;FEVR Retinal detachment HP:0000541 1 1 Dimitra Ilektra Lerou
00275481 Patient 1 Robitaille 2009 PubMed: Robitaille 2009 PubMed: Robitaille 2002 3-generation family, affected maternal grandmother and aunt F no Canada - 09y 0 - - EVR;FEVR Peripheral retinal avascularization HP:0007685 Anterior chamber synechiae HP:0007833 Retinal detachment HP:0000541 1 1 Dimitra Ilektra Lerou
00275483 Patient 2 Robitaille 2002 PubMed: Robitaille 2002 - ? ? ? (unknown) European ? 0 - - EVR;FEVR - 1 1 Dimitra Ilektra Lerou
00290555 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 244 Mohammed Faruq
00290556 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00290557 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 117 Mohammed Faruq
00304324 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 5 Mohammed Faruq
00304325 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00309170 - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00316099 K135 PubMed: Heidet 2017 affected patient and 1st degree relative (BO) - - France - - 0 - - CAKUT unilateral kidney agenesis; preauricular pit 1 2 Johan den Dunnen
00328389 690933 PubMed: Zhou 2018 - - - China - - 0 - - retinal disease - 1 1 -
00333377 Pat9 PubMed: Huang 2017 - F - China - - 0 - - retinal disease see paper; ... 1 1 -
00333451 Fam1 PubMed: Iarossi 2017 2-generation family, 1 affected, carrier mother M - Italy - - 0 - - retinal disease see paper; ... 1 1 -
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