All individuals with variants in gene CRYBA1

34 entries on 1 page. Showing entries 1 - 34.
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00013451 - - - M - Germany - - - no (pedigree) - FAP1 additional phenotype data available; polyps distal; no colon cancer 2 1 Stefan Aretz
00033874 - PubMed: Basti 1996 3-generation family, 10 affecteds - - India - - - - - CTRCT congenital zonular; sutural opacities 1 10 Lars Hansen
00033875 - - 3-generation family, 13 affecteds - - Brazil - - - - - CTRCT congenital; zonular; sutural opacities 3 13 Johan den Dunnen
00033876 - - 4-generation family, 14 affecteds - - China - - - - - CTRCT congenital 1 14 Johan den Dunnen
00033877 - - 6-generation family, 20 affecteds - - United Kingdom (Great Britain) - - - - - CTRCT congenital 1 20 Lars Hansen
00033912 - - 4-generation family, 9 affecteds - - China - - - - - CTRCT congenital; early childhood bilateral and symmetrical pulverulent nuclear cataracts 2 9 Johan den Dunnen
00033913 - - 4-generation family, 5 affecteds - - China - - - - - CTRCT congenital; early childhood bilateral and symmetrical pulverulent nuclear cataracts 2 5 Johan den Dunnen
00033914 - - - - - Brazil - - - - - Healthy/Control - 1 1 Johan den Dunnen
00033933 - - 5-generation family, 14 affecteds - - Switzerland - - - - - CTRCT congenital 1 14 Johan den Dunnen
00033934 - - 4-generation family, 18 affecteds - - India - - - - - CTRCT congenital 1 18 Johan den Dunnen
00033935 - - 4-generation family, 19 affecteds - - China - - - - - CTRCT congenital 1 9 Johan den Dunnen
00033936 - - 4-generation family, 21 affecteds - - Australia European - - - - CTRCT congenital 1 21 Johan den Dunnen
00033937 - - - - - Australia European - - - - Healthy/Control - 1 1 Johan den Dunnen
00033938 - - - - - Australia European - - - - Healthy/Control - 1 1 Johan den Dunnen
00033939 - - - - - Australia European - - - - Healthy/Control - 1 1 Johan den Dunnen
00033992 - - 4-generation family, 13 affecteds - - India - - - - - CTRCT congenital 1 13 Johan den Dunnen
00034002 - {PMID10585769:Graw 1999} - - - - (not applicable) - - - - - CTRCT progressive opacity 1 1 Johan den Dunnen
00034021 - - - - - Australia - - - - - CTRCT cataract, microcornea, iris processes to lens 1 1 Ivan Prokudin
00065044 - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected mother, maternal grandfather, maternal cousins M no - - - - - - CCTRCT lamellar cataract 1 4 Johan den Dunnen
00065045 - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected mother and brother F no - - - - - - CCTRCT lamellar, sutural cataract 1 3 Johan den Dunnen
00065046 - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected father and sister F no - - - - - - CCTRCT nuclear cataract 1 3 Johan den Dunnen
00065051 - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected paternal great uncle M yes - - - - - - CCTRCT nuclear, cortical, lamellar cataract; watering eyes since birth; delayed speech and motor movements, developmental delay 1 2 Johan den Dunnen
00065052 - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected daughter M no - - - - - - CCTRCT cataract; congenital nystagmus, strabismus, alternate large-angle squint; cardiomyopathy 1 2 Johan den Dunnen
00073107 24926697-FamPatIV3 PubMed: Zhang 2014, Journal: Zhang 2014 4-generation family, 5 affecteds (3F, 2M) F no China Chinese - - - - CCTRCT nuclear opacities (HP:?) 1 5 Jamie Zeegers
00088183 NYS-008 PubMed: Thomas 2017, Journal: Thomas 2017 3-generation family, 3 affected (2F, M) F;M - United Kingdom (Great Britain) - - - - - SORD BCVA = 0.48LogMAR Horizontal and vertical jerk nystagmus Ptosis 1 1 Mervyn Thomas
00291666 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 17 Mohammed Faruq
00291667 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 11 Mohammed Faruq
00335112 931 PubMed: Haer-Wigman 2017 family - no Netherlands - - - - - ? 1y-diagnosis visual impairment 1 1 LOVD
00336001 - PubMed: Sergouniotis 2016 analysis 181 cases - - United Kingdom (Great Britain) - - - - - CTRCT - 1 1 LOVD
00382148 187 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - CTRCT10 congenital cataract; MIM, 600881 1 1 LOVD
00385462 14017471 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00385475 15016254 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00385504 16026011 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00392280 42 PubMed: Bell 2021 - M no (United Kingdom (Great Britain)) - - - - - retinal disease Posterior subcapsular cataract 1 1 LOVD
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