All individuals with variants in gene CRYBB2

103 entries on 2 pages. Showing entries 1 - 100.
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Disease     
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00013654 - - - F - Germany - - - no (pedigree) - FAP1 no additional phenotype data available 2 1 Stefan Aretz
00033889 - - 5-generation family, 9 affecteds - - India - - - - - CTRCT congenital, cerulean type (CCA2) 5 9 Johan den Dunnen
00033890 - - 4-generation family, 18 affecteds (1 homozygous) - - United States - - - - - CTRCT congenital, cerulean type (CCA2); Cerulean blue 1 17 Johan den Dunnen
00033891 - - 4-generation family, 13 affecteds - - Switzerland - - - - - CTRCT cataract, Coppock-like (CCL); pulverulent opacification embryonal nucleus, gray disc appearance associated with zonular opacities (variable degree) 1 13 Johan den Dunnen
00033892 - - 5-generation family, 19 affecteds - - China - - - - - CTRCT cataract, congenital; progressive polymorphic 1 19 Johan den Dunnen
00033893 - - 5-generation family, 33 affecteds - - India - - - - - CTRCT cataract, sutural, punctate and cerulean opacities (CSPC); sutural and cerulean opacities 2 33 Johan den Dunnen
00033894 CC00156 PubMed: Hansen 2009 3-generation family, 2 affecteds (F) F - Denmark - - - - - CTRCT - 1 2 Johan den Dunnen
00033908 - - - - - Germany - - - - - CTRCT congenital 4 1 Johan den Dunnen
00033954 - - homozygous case Fam ADCC-1 - - United States - - - - - CTRCT congenital, cerulean type (CCA2); Cerulean blue 2 1 Johan den Dunnen
00033955 - - unrelated patient - - Switzerland - - - - - CTRCT congenital, cerulean type (CCA2) 1 1 Johan den Dunnen
00033956 - - 4-generation family, 13 affecteds - - Switzerland - - - - - CTRCT cataract, Coppock-like (CCL); pulverulent opacification embryonal nucleus, gray disc appearance associated with zonular opacities (variable degree) 1 13 Johan den Dunnen
00033957 - - different families - - India - - - - - CTRCT - 1 6 Johan den Dunnen
00033958 - - different families - - India - - - - - CTRCT - 1 4 Johan den Dunnen
00033959 - - - - - India - - - - - CTRCT - 1 1 Johan den Dunnen
00033960 - - 4-generation family, 19 affecteds - - Chile - - - - - CTRCT same morphology and density in each eye (HP:?), pulverulent embryonal cataract (HP:0010693), pulverulent cortical opacities (HP:0010694), dense posterior star-shaped subcapsular cataract (HP:0007787) with pulverulent opacities in the cortical and embryonal regions, dense embryonal cataracts (HP:?) 2 19 Johan den Dunnen
00033961 - PubMed: Pauli 2007 mother, has affected son and daugther - - Germany - - - - - CTRCT congenital, nuclear with additional ring-shaped cortical opacity 1 3 Johan den Dunnen
00033962 - PubMed: Li 2008 5-generation family, 18 affecteds - - China - - - - - CTRCT congenital; progressive polymorphic congenital coronary 1 18 Johan den Dunnen
00033963 - - - - - - - - - - - CTRCT progressive opacity 2 1 Johan den Dunnen
00033964 - - - - - - - - - - - CTRCT progressive opacity 1 1 Johan den Dunnen
00033965 - - - - - - - - - - - CTRCT - 1 1 Johan den Dunnen
00033966 CC00133 PubMed: Hansen 2009 affected mother and daugther F - Denmark - - - - - CTRCT - 10 2 Johan den Dunnen
00033967 - - 3-generation family, 6 affecteds ? - Lesotho Basotho - - - - CTRCT congenital 1 6 Johan den Dunnen
00033993 - - 4-generation family, 7 affecteds - - India - - - - - CTRCT cortical, pulverulent opacities 1 7 Johan den Dunnen
00034001 - PubMed: Ganguly 2008 - - - - - - - - - CTRCT zonular, progressive cataract 1 1 Johan den Dunnen
00034005 - - 4-generation family, 8 affecteds - - India - - - - - CTRCT congenital; variable lamellar / nuclear 3 1 Johan den Dunnen
00034007 - - family, 3 affecteds - - India - - - - - CTRCT - 5 1 Johan den Dunnen
00034008 - - 2-generation family, 2 affecteds - - India - - - - - CTRCT zonular 3 1 Johan den Dunnen
00034009 - - family, 1 affected - - India - - - - - CTRCT posterior polar/lenticonus, capsular dehiscence 2 1 Johan den Dunnen
00034010 - - family, 2 affecteds - - India - - - - - CTRCT posterior subcapsula 4 1 Johan den Dunnen
00034023 - - - F no China - - - - - CTRCT congenital cataract 1 1 Juhua Yang
00034024 - - - F no China - - - - - CTRCT congenital cataract 1 1 Juhua Yang
00065033 - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected mother F no - - - - - - CCTRCT coralliform cataract 1 2 Johan den Dunnen
00072343 - PubMed: Faletra 2013, Journal: Faletra 2013 3-generation family, PatIII1 M no Italy Italian - - - - CCTRCT congenital cataract (HP:0000519) 1 1 Jamie Zeegers
00072345 - PubMed: Faletra 2013, Journal: Faletra 2013 3-generation family, PatIII2 M no Italy Italian - - - - CCTRCT congenital cataract (HP:0000519) 1 1 Jamie Zeegers
00072346 - PubMed: Faletra 2013, Journal: Faletra 2013 3-generation family, PatIII3 F no Italy Italian - - - - CCTRCT congenital cataract (HP:0000519) 1 1 Jamie Zeegers
00072347 - PubMed: Faletra 2013, Journal: Faletra 2013 3-generation family, PatII2 (son) M no Italy Italian - - - - CCTRCT congenital cataract (HP:0000519) 1 1 Jamie Zeegers
00072348 - PubMed: Faletra 2013, Journal: Faletra 2013 3-generation family, 5 affecteds (2F, 3M), mother, son and 3 grand children, PatI2 (mother) F no Italy Italian - - - - CCTRCT congenital cataract (HP:0000519) 1 5 Jamie Zeegers
00072352 - PubMed: Weisschuh 2012 4-generation family, 11 affecteds (5F, 6M) , PatIV1 M - Croatia (Hrvatska) Croation - - - - CCTRCT bilateral opacification of the lens (HP:?), anterior axial embryonal nuclear cataract (HP:?), no pathological findings of the anterior or posterior chamber structures (-HP:?) 1 11 Jamie Zeegers
00073120 21245961-FamPatIII9 PubMed: Yao 2011 4-generation family, 9affecteds (6F, 3M), PatIII9 M - China Chinese - - - - CCTRCT posterior subcapsular cataract (HP:0007787), bilateral opacification of the lens (-HP:?) 1 9 Jamie Zeegers
00073165 24312286-FamPatIII30 PubMed: Chen 2013, Journal: Chen 2013 4-generation family, 22 affecteds (11F, 11M), PatIII30 F - China Chinese >12y - - - CCTRCT membranous cataract (HP:0010922), strabismus (HP:0000486) 1 22 Jamie Zeegers
00074393 - PubMed: Bateman 2007, Journal: Bateman 2007 5-generation family, 21 affecteds (8F, 13M) F;M no Chile - - - - - CCTRCT cataracts included pulverulent embryonal cataract, pulverulent cortical opacities, dense posterior star-shaped subcapsular cataract with pulverulent opacities in the cortical and embryonal regions, and dense embryonal cataracts 2 21 Johan den Dunnen
00231413 Fam22 PubMed: Cox 2019 3-generation family, 3 affected (2F, M) F;M - Colombia - - - - - CLP - 1 3 Timothy Cox
00295488 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00335164 3858 PubMed: Haer-Wigman 2017 family - no Netherlands - - - - - ? - 1 1 LOVD
00392263 9 PubMed: Bell 2021 - F no (United Kingdom (Great Britain)) - - - - - retinal disease congenital cataract, myopia 1 1 LOVD
00392269 22 PubMed: Bell 2021 - M no (United Kingdom (Great Britain)) - - - - - retinal disease Pseudophakia, macular dystrophy, band keratopathy, esotropia 1 1 LOVD
00392275 28 PubMed: Bell 2021 - M no (United Kingdom (Great Britain)) - - - - - retinal disease aphakia 1 1 LOVD
00392278 40 PubMed: Bell 2021 - F no (United Kingdom (Great Britain)) - - - - - retinal disease aphakia(postsurgical) blepharitis, esotropia, asthma, allergy (sweetcorn, nuts, eggs) 1 1 LOVD
00392296 9 PubMed: Bell 2021 - M no (United Kingdom (Great Britain)) - - - - - retinal disease congenital cataract 1 1 LOVD
00392298 28 PubMed: Bell 2021 - M no (United Kingdom (Great Britain)) - - - - - retinal disease anterior/posterior subcapsular cataract and blue dot cataract, myopic astigmatism 1 1 LOVD
00392299 28 PubMed: Bell 2021 - M no (United Kingdom (Great Britain)) - - - - - retinal disease sutural/ blue dot cataract, myopic astigmatism 1 1 LOVD
00392300 28 PubMed: Bell 2021 - F no (United Kingdom (Great Britain)) - - - - - retinal disease blue dot cataract myopic astigmatism 1 1 LOVD
00392301 40 PubMed: Bell 2021 - F no (United Kingdom (Great Britain)) - - - - - retinal disease congenital cataract 1 1 LOVD
00414372 WHP39 PubMed: Sun 2018 - F - China - - - - - ? - 1 1 LOVD
00414381 WHP48 PubMed: Sun 2018 - M - China - - - - - ? - 1 1 LOVD
00414386 WHP53 PubMed: Sun 2018 - M - China - - - - - ? - 1 1 LOVD
00414388 WHP55 PubMed: Sun 2018 - F - China - - - - - ? - 1 1 LOVD
00434038 Fam16 PubMed: Zhai 2017 3-generation family, 5 affected (f< 4M) M - China - - - - - CTRCT cerulean cataract 1 5 Johan den Dunnen
00434039 Fam17 PubMed: Zhai 2017 3-generation family, 3 affected (F, 2M) M - China - - - - - CTRCT cerulean cataract 1 3 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
00434130 Fam2PatII1 PubMed: Li 2019 2-generation family, affected mother/2 daughters F - China - - - - - CTRCT see paper; ..., nuclear/lamellar cataract, blue punctate opacities 1 3 Johan den Dunnen
00434132 Fam4PatIV1 PubMed: Li 2019 4-generation family, 4 affected (2F, 2M) F - China - - - - - CTRCT see paper; ..., total cataract 1 4 Johan den Dunnen
00434156 Fam01 PubMed: Fernandez-Alcalde 2021 - - - Spain - - - - - CTRCT lamellar cataract; no microphthalmia; no microcornea; no iris malformations 1 1 Johan den Dunnen
00434192 WCC17PatIV1 PubMed: Zhang 2018 4-generation family, 5 affected (5F) F - China - - - - - CTRCT cortical punctate opacity 1 5 Johan den Dunnen
00434199 Pat1 PubMed: Karahan 2021 - - - Turkey - - - - - CTRCT bilateral congenital cataract 1 1 Johan den Dunnen
00434200 Pat4 PubMed: Karahan 2021 - - - Turkey - - - - - CTRCT bilateral congenital cataract 1 1 Johan den Dunnen
00434212 Fam27PatI PubMed: Jackson 2020 family F - - Asia - - - - ? cerulean cataract; myopia; astigmatism 1 3 Johan den Dunnen
00434226 Fam27PatII PubMed: Jackson 2020 sib F - - Asia - - - - ? cerulean cataract; hypermetropia; astigmatism 1 1 Johan den Dunnen
00434227 Fam27PatIII PubMed: Jackson 2020 sib M - - Asia - - - - ? cerulean cataract; hypermetropia; astigmatism 1 1 Johan den Dunnen
00434245 Fam26275 PubMed: Jackson 2020 - - - United Kingdom (Great Britain) white - - - - ? - 1 1 Johan den Dunnen
00434289 Fam23303 PubMed: Jackson 2020 - - - - - - - - - ? - 1 1 Johan den Dunnen
00434296 CAT-11 PubMed: Zhuang 2019 2-generation family, 3 affected (3M) M - China - - - - - CTRCT - 1 3 Johan den Dunnen
00434297 CAT-44 PubMed: Zhuang 2019 family - - China - - - - - CTRCT - 1 1 Johan den Dunnen
00434298 CAT-24 PubMed: Zhuang 2019 family - - China - - - - - CTRCT - 3 1 Johan den Dunnen
00434299 CAT-53 PubMed: Zhuang 2019 patient - - China - - - - - CTRCT - 3 1 Johan den Dunnen
00434300 CAT-54 PubMed: Zhuang 2019 family - - China - - - - - CTRCT - 3 1 Johan den Dunnen
00441809 CSA133 PubMed: Javadiyan 2017 3-generation family, affected mother/daughter F - Australia - - - - - CTRCT see paper; ... 1 2 Johan den Dunnen
00441810 CRVEEH85 PubMed: Javadiyan 2017 3-generation family, 4 affected (3F, M) F;M - Australia - - - - - CTRCT see paper; ... 1 4 Johan den Dunnen
00441823 Fam1/2 PubMed: Hussain 2023 two families, 5-generation with 9 affected (2F, 7M)/3-generation with 4 affected (3F, M) F;M - Pakistan - - - - - CTRCT see paper; ... 1 13 Johan den Dunnen
00444119 Fam7PatII2 PubMed: Astiazaran 2018 2-generation family, affected mother/son F - Mexico - - - - - CTRCT bilateral total cataract; strabismus, microphthalmia 1 2 Johan den Dunnen
00444120 Fam7PatI2 PubMed: Astiazaran 2018 son M - Mexico - - - - - CTRCT bilateral lamellar cataract 1 1 Johan den Dunnen
00444141 FamB PubMed: Sun 2017 3-generation family, affected mother/son F;M - China - - - - - CTRCT see paper; ..., microcornea, cataract, posterior segment coloboma, high intraocular pressure 1 2 Johan den Dunnen
00444876 Pat2 PubMed: Fan 2020 2-generation family, 1 affected - - China - - - - - CTRCT binocular, all white 1 1 Johan den Dunnen
00444896 Fam13PatII1 PubMed: Ma 2016 2-generation family, 1 affected, unaffected parents F - Australia - - - - - CTRCT see paper; ..., bilateral cataract 1 1 Johan den Dunnen
00444918 Fam35PatII1 PubMed: Ma 2016 2-generation family, 1 affected, unaffected parents F - Australia - - - - - CTRCT see paper; ..., bilateral cataract, 2y-visual acuity 6/80 bilateral, nystagmus 2 1 Johan den Dunnen
00444920 Fam37PatII1 PubMed: Ma 2016 2-generation family, 1 affected, unaffected parents M - Australia - - - - - CTRCT see paper; ..., bilateral anterior polar cataract, L amblyopia, 19y-visual acuity R 6/6 L count fingers 1 1 Johan den Dunnen
00445057 CC0000222 PubMed: Kessel 2021 patient - - Denmark - - - - - CTRCT cataract 1 1 Johan den Dunnen
00445079 Fam2PatIII1 PubMed: Reichsteiner 2021 3-generation family, affected brother/sister, unaffected heterozygous carrier father M - Switzerland India - - - - CTRCT nuclear plus sutural cataract; mild high-frequency sensorineural hearing loss; no aphakic glaucoma 1 2 Johan den Dunnen
00445080 Fam2PatIII2 PubMed: Reichsteiner 2021 sister F - Switzerland India - - - - CTRCT nuclear plus sutural cataract; non-syndromic; no aphakic glaucoma 1 1 Johan den Dunnen
00445081 Fam3PatII1 PubMed: Reichsteiner 2021 2-generation family, 1 affected, unaffected non-carrier parents M - Switzerland - - - - - CTRCT total cataract; non-syndromic; aphakic glaucoma 1 1 Johan den Dunnen
00445134 FamDJC1PatIII4 PubMed: Santhiya 2010 3-generation family, 1 affected, unaffected heterozygous parents/relatives F yes India - - - - - CTRCT see paper; ..., congenital zonular cataract 1 1 Johan den Dunnen
00445135 FamJPM1PatIII2 PubMed: Santhiya 2010 3-generation family, 6 affected (3F, 3M) F - India - - - - - CTRCT see paper; ...,bilateral congenital cataract, amblyopia and nystagmus left eye; developmental milestones normal 1 6 Johan den Dunnen
00445137 FamPatIV1 PubMed: Xu 2021 4-generation family, 5 affected (3F, 2M) M - China - - - - - CTRCT see paper; ..., bilateral, progressive congenital cataract, developed during embryonic and fetal phases, aggravated with age; mother congenital bilateral cortical opacity 1 5 Johan den Dunnen
00446440 Fam22Pat61 PubMed: Liu 2023 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - CTRCT bilateral congenital cataract 1 1 Johan den Dunnen
00446472 Fam70Pat192 PubMed: Liu 2023 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - CTRCT bilateral congenital cataract 1 1 Johan den Dunnen
00446510 Fam116Pat311 PubMed: Liu 2023 - M - China - - - - - CTRCT bilateral congenital cataract 1 1 Johan den Dunnen
00446557 FamAPatIII1 PubMed: Chen 2021 3-generation family, 3 affected (2F, M) F - China Han - - - - CTRCT bilateral complete cataract; intraocular lens; no optic atrophy; nystagmus; esotropia 1 3 Johan den Dunnen
00446558 FamAPatII1 PubMed: Chen 2021 mother F - China Han - - - - CTRCT bilateral complete cataract; intraocular lens; no optic atrophy; nystagmus; esotropia 1 1 Johan den Dunnen
00446559 FamAPatI1 PubMed: Chen 2021 grandfather M - China Han - - - - CTRCT bilateral complete cataract; aphakia; optic atrophy; nystagmus; esotropia 1 1 Johan den Dunnen
00446560 FamBPatIII1 PubMed: Chen 2021 3-generation family, 3 affected (2F, M) F - China Han - - - - CTRCT bilateral nuclear cataract; intraocular lens; no optic atrophy; no nystagmus; no esotropia 1 3 Johan den Dunnen
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