All individuals with variants in gene PAX6

155 entries on 2 pages. Showing entries 1 - 100.
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00036450 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036451 - - - - - Germany - - - - - AN aniridia 1 1 Andreas Laner
00036452 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036453 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036454 - - - - - Germany - - - - - ? bilateral Cataracta congenita, Irisatrophie, Sphinkteraplasie, Irisgefäße gehen auf Linse über, wahrscheinlich Reste der fetalen Pupillarmembran 1 1 Andreas Laner
00036455 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036456 - - - - - Germany - - - - - ? DD WAGR syndrome, Aniridie, Makularhypoplasie 1 1 Andreas Laner
00036457 - - - - - Germany - - - - - AN aniridia 1 1 Andreas Laner
00037525 - - - M no - white - - - - ? Microphthalmia Primary Aphakia Iris Hypoplasia Papillary Coloboma Sclerocornea Congenital Glaucoma Microcephaly 1 1 Elena Semina
00080926 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - AN Aniridia (OMIM:106210) 1 1 Daniel Trujillano
00147127 30631761-Pat41_S5 PubMed: Han 2018 - - - Korea - - - - - DD developmental delay, intellectual disability, no epilepsy, aniridria, ASD 1 1 Joonhong Park
00207488 - - - F - - - - - - - LCA - 1 3 Marta de Castro-Miró
00246127 PatI2 PubMed: Xiao 2019 3-generation family, 4 affected (2F, 2M) M - China - - - - - AN best corrected visual acuity R/L 0.05/0.02; aniridia-related keratopathy; complete aniridia; cataract; no glauvoma; macular hypoplasia; nystagmus; esotropia; no ptosis; normal psychomotor development 1 4 Johan den Dunnen
00246128 PatII4 PubMed: Xiao 2019 daughter of PatI2 F - China - - - - - AN best corrected visual acuity R/L 0.02/0.02; no aniridia-related keratopathy; complete aniridia; cataract; no glauvoma; macular hypoplasia; nystagmus; no strabismus ; no ptosis; normal psychomotor development 1 1 Johan den Dunnen
00246129 PatII5 PubMed: Xiao 2019 daughter of PatI2 F - China - - - - - AN best corrected visual acuity R/L 0.1/0.1; no aniridia-related keratopathy; complete aniridia; aphakia, posterior capsule opacification; no glauvoma; macular hypoplasia uncertain (because of PCO); nystagmus; no strabismus ; no ptosis; normal psychomotor development 1 1 Johan den Dunnen
00246130 PatIII4 PubMed: Xiao 2019 son of PatII5 M - China - - - - - AN best corrected visual acuity R/L 0.2/0.2; no aniridia-related keratopathy; complete aniridia; aphakia, posterior capsule opacification; no glauvoma; macular hypoplasia uncertain (because of PCO); nystagmus; exotropia; ptosis; normal psychomotor development 1 1 Johan den Dunnen
00269925 - - - F - - - - - - - ? Macular hypoplasia (HP:0001104); Abnormality of the lens (HP:0000517); Congenital cataract (HP:0000519); Aplasia/Hypoplasia of the retina (HP:0008061) 1 1 Andreas Laner
00290377 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00290378 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 57 Mohammed Faruq
00296533 - - - M - - - - - - - ? Abnormality of the iris (HP:0000525); Aniridia (HP:0000526) 1 1 Andreas Laner
00304301 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00307760 UK10K_FINDWGA5410895 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00309280 - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00309281 - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00314750 Fam1Pat1-3 PubMed: Lima Cunha 2020 2-generation family, 1 affected, unaffected parents F no United Kingdom (Great Britain) white - - - - ? see paper; isolated foveal hypoplasia, nystagmus, ... 1 1 Johan den Dunnen
00314751 Fam2Pat2-3/4/5 PubMed: Lima Cunha 2020 2-generation family, 3 affected sibs (2F, M), unaffected parents F;M no Somalia - - - - - ? see paper; isolated foveal hypoplasia, nystagmus, ... 1 1 Johan den Dunnen
00332101 F29‐M PubMed: Patel 2017 patient - yes Saudi Arabia - - - - - MCOP microphthalmia, anterior segment dysgenesis 1 1 LOVD
00332179 Fam8NCEPatIv3 PubMed: de CastrojalopezMiro 2018 affected female F - - - - - - - ? see paper; ... 1 1 Johan den Dunnen
00332399 Pat20 PubMed: Rim 2017 - F - Korea - - - - - retinal disease vertical jerk nystagmus; fundus grossly normal; no oculodigital sign; cataract 1 1 LOVD
00332400 Pat21 PubMed: Rim 2017 - M - Korea - - - - - retinal disease horizontal jerk nystagmus; fundus no foveal reflex; no oculodigital sign; cataract 1 1 LOVD
00332401 Pat22 PubMed: Rim 2017 - F - Korea - - - - - retinal disease horizontal pendular nystagmus; fundus no foveal reflex; no oculodigital sign 1 1 LOVD
00332402 Pat23 PubMed: Rim 2017 - M - Korea - - - - - retinal disease horizontal jerk nystagmus; fundus no foveal reflex; no oculodigital sign 1 1 LOVD
00333928 351 PubMed: Stone 2017 1 affected F - (United States) - - - - - retinal disease clinical category IA1b 1 1 LOVD
00335134 4212 PubMed: Haer-Wigman 2017 family - no Netherlands - - - - - ? 0y-diagnosis visual impairment 1 1 LOVD
00371662 178813 - - M ? Germany - - - - - AN1 (+) Abnormality of the lens,(+) Cataract 1 1 Andreas Laner
00378060 IR_SH_0028 - - F - Korea, South (Republic) - - - - - retinal disease HP:0032037, HP:0001129, HP:0000639, HP:0000006, HP:0000639, HP:0007750, HP:0000526 1 1 Jinu Han
00379764 IR_GH_0112 - - M - Korea, South (Republic) - - - - - retinal disease HP:0030515, HP:0000613, HP:0000639, HP:0000526, HP:0007750 1 1 Jinu Han
00380089 IR_GH_0179 - - F - Korea, South (Republic) - - - - - retinal disease HP:0030515, HP:0000639, HP:0000526, HP:0007750 1 1 Jinu Han
00382120 241 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - AN1 anterior segment developmental anomalies including glaucoma; MIM, 106210 1 1 LOVD
00382738 1290404 - - M - Korea, South (Republic) - - - - - ? HP:0000639, HP:0033743, HP:0000639 1 1 Jinu Han
00382739 4005057 - - M - Korea, South (Republic) - - - - - ? HP:0000639, HP:0033743, HP:0000639 1 1 Jinu Han
00382740 5184448 - - F - Korea, South (Republic) - - - - - ? HP:0000639, HP:0033743, HP:0000639 1 1 Jinu Han
00382741 7422048 - - F - Korea, South (Republic) - - - - - ? HP:0000639, HP:0033743, HP:0000639 1 1 Jinu Han
00382742 7448947 - - F - Korea, South (Republic) - - - - - ? HP:0000639, HP:0033743, HP:0000639 1 1 Jinu Han
00382743 8250251 - - M - Korea, South (Republic) - - - - - ? HP:0000639, HP:0033743, HP:0000639 1 1 Jinu Han
00382744 8265095 - - M - Korea, South (Republic) - - - - - ? HP:0000639, HP:0033743, HP:0000639 1 1 Jinu Han
00382745 8458803 - - F - Korea, South (Republic) - - - - - ? HP:0000639, HP:0033743, HP:0000639 1 1 Jinu Han
00382746 8576439 - - F - Korea, South (Republic) - - - - - ? HP:0000639, HP:0033743, HP:0000639 1 1 Jinu Han
00382747 8641603 - - M - Korea, South (Republic) - - - - - ? HP:0000639, HP:0033743, HP:0000639 1 1 Jinu Han
00382748 8808547 - - M - Korea, South (Republic) - - - - - ? HP:0000639, HP:0033743, HP:0000639 1 1 Jinu Han
00382749 9037671 - - M - Korea, South (Republic) - - - - - ? HP:0000639, HP:0033743, HP:0000639 1 1 Jinu Han
00382750 9338938 - - F - Korea, South (Republic) - - - - - ? HP:0000639, HP:0033743, HP:0000639 1 1 Jinu Han
00382751 4375217 - - F - Korea, South (Republic) - - - - - ? HP:0000639, HP:0033743, HP:0000639 1 1 Jinu Han
00382752 9290975 - - M - Korea, South (Republic) - - - - - ? HP:0000639, HP:0033743, HP:0000639 1 1 Jinu Han
00383387 3_IV-1 PubMed: Wang 2019 Family 3, individual IV-1 M - China - - - - - CCTRCT Two round-shaped opacifications in the middle of the lens 1 1 LOVD
00384235 12412 PubMed: Wang 2019 - M - China - - - - - AN - 1 1 LOVD
00384245 1312 PubMed: Wang 2019 - M - China - - - - - AN - 1 1 LOVD
00384291 13493 PubMed: Wang 2019 - F - China - - - - - AN - 1 1 LOVD
00384315 13626 PubMed: Wang 2019 - F - China - - - - - ? - 1 1 LOVD
00384338 13752 PubMed: Wang 2019 - M - China - - - - - AN - 1 1 LOVD
00384418 14402 PubMed: Wang 2019 - F - China - - - - - AN - 1 1 LOVD
00384428 14474 PubMed: Wang 2019 - M - China - - - - - AN - 1 1 LOVD
00384437 14530 PubMed: Wang 2019 - F - China - - - - - ? - 1 1 LOVD
00384486 14858 PubMed: Wang 2019 - M - China - - - - - ? - 1 1 LOVD
00384488 14860 PubMed: Wang 2019 - F - China - - - - - ? - 1 1 LOVD
00384507 18896 PubMed: Wang 2019 - F - China - - - - - AN - 1 1 LOVD
00385520 17012891 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00387677 76 PubMed: Zanolli 2020 individual ID not present in paper, consecutive numbers given ? - Chile - - - - - retinal disease - 1 1 LOVD
00390037 G1494 PubMed: Liu 2020 - ? - China - - - - - retinal disease - 1 1 LOVD
00390043 G1518 PubMed: Liu 2020 - ? - China - - - - - retinal disease - 1 1 LOVD
00391378 46 {PMID:Méjécase 2020:3278337 - ? - United Arab Emirates - - - - - retinal disease - 1 1 LOVD
00392256 1 PubMed: Bell 2021 - F no (United Kingdom (Great Britain)) - - - - - retinal disease Posterior subcapsular cataract cataract, aniridia, nystagmus, glaucoma, foveal hypoplasia 1 1 LOVD
00392266 13 PubMed: Bell 2021 - F no (United Kingdom (Great Britain)) - - - - - retinal disease Posterior cortical, aniridia, nystagmus, persistent pupillary membrane, foveal hypoplasia, 1 1 LOVD
00392272 25 PubMed: Bell 2021 - M no (United Kingdom (Great Britain)) - - - - - retinal disease cortical aniridia, foveal hypoplasia, nystagmus 1 1 LOVD
00401181 Pat15 PubMed: Ehrenberg 2021 - F - Israel Jewish-Ashkenazi - - - - ? see paper; ... 1 1 Johan den Dunnen
00401182 Pat16 PubMed: Ehrenberg 2021 - F - Israel Jewish-Ashkenazi - - - - ? see paper; ... 1 1 Johan den Dunnen
00401183 Pat17 PubMed: Ehrenberg 2021 - F - Syria;Morocco Jewish - - - - ? see paper; ... 1 1 Johan den Dunnen
00401184 FamPat18 PubMed: Ehrenberg 2021 family, diamniotic-dichorionic twins M - Poland;Italy;Ireland;Portugal Jewish - - - - ? see paper; ... 1 2 Johan den Dunnen
00401185 FamPat19 PubMed: Ehrenberg 2021 twin M - Poland;Italy;Ireland;Portugal Jewish - - - - ? see paper; ... 1 1 Johan den Dunnen
00401186 Pat20 PubMed: Ehrenberg 2021 - M - France;Italy;England;Sweden;Poland Jewish - - - - ? see paper; ... 1 1 Johan den Dunnen
00401187 Pat21 PubMed: Ehrenberg 2021 - F - Italy;Poland Jewish - - - - ? see paper; ... 1 1 Johan den Dunnen
00401188 FamPat23 PubMed: Ehrenberg 2021 family, affected mother/son F - Israel Jewish;Kurdistan - - - - ? see paper; ... 1 2 Johan den Dunnen
00401189 FamPat22 PubMed: Ehrenberg 2021 son M - Morocco Jewish;Kurdistan - - - - ? see paper; ... 1 1 Johan den Dunnen
00401190 Pat24 PubMed: Ehrenberg 2021 - F - Greece;Syria;Iran Jewish - - - - ? see paper; ... 1 1 Johan den Dunnen
00408881 - PubMed: Henderson-2007 - F - - - - - - - retinal disease - 1 1 LOVD
00414345 WHP12 PubMed: Sun 2018 - M - China - - - - - ? - 1 1 LOVD
00414396 WHP63 PubMed: Sun 2018 - F - China - - - - - ? - 1 1 LOVD
00419569 8048 PubMed: Marinakis 2021 2-generation family, patient and similarly affected mother F - Greece - - - - - ? - 1 2 Jan Traeger-Synodinos
00434027 Fam97008Pat1 PubMed: Jiao 2022 2-generation family, affected mother/son F - Ukraine - - - - - CTRCT congenital cataract; congenital aniridia corneal degeneration;secondary glaucoma, partial optic atrophy; nystagmuscongenital aniridia; visual acuity can’t establish/Hm + 10.0 D 1 2 Johan den Dunnen
00434028 Fam97008Pat3 PubMed: Jiao 2022 son M - Ukraine - - - - - CTRCT Ccngenital cataract, corraliform; congenital aniridia, secondary glaucoma, nystagmus; visual acuity 0.12/0.1 1 1 Johan den Dunnen
00434043 Fam24 PubMed: Zhai 2017 2-generation family, 1 affected M - China - - - - - CTRCT coralliform cataract; nystagmus, aniridia 1 1 Johan den Dunnen
00434045 Fam27 PubMed: Zhai 2017 3-generation family, 4 affected (2F, 2M) F - China - - - - - CTRCT anterior and posterior polar cataract; nystagmus, aniridia 1 4 Johan den Dunnen
00434075 Pat31 PubMed: Li 2016 - - - China - - - - - CTRCT bilateral total cataract 1 1 Johan den Dunnen
00434177 Fam22 PubMed: Fernandez-Alcalde 2021 - - - Spain - - - - - CTRCT nuclear cataract; no microphthalmia; no microcornea; no iris malformations 1 1 Johan den Dunnen
00434178 Fam23 PubMed: Fernandez-Alcalde 2021 - - - Spain - - - - - CTRCT cataract; microphthalmia; microcornea; no iris malformations 1 1 Johan den Dunnen
00434208 Fam20PatI PubMed: Jackson 2020 - F - - - - - - - ? aniridia; intellectual disability 1 1 Johan den Dunnen
00434234 Fam25272 PubMed: Jackson 2020 - - - - white - - - - ? - 1 1 Johan den Dunnen
00434239 Fam25755 PubMed: Jackson 2020 - - - - Asia;white - - - - ? - 1 1 Johan den Dunnen
00444297 Pat64 PubMed: Moon 2021 - - - Korea - - - - - retinal disease - 1 1 Johan den Dunnen
00444298 Pat65 PubMed: Moon 2021 - - - Korea - - - - - retinal disease - 1 1 Johan den Dunnen
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