All individuals with variants in gene CRYGC

28 entries on 1 page. Showing entries 1 - 28.
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00013661 - - - M - Germany - - - yes (pedigree) - FAP-1 additional phenotype data available; colorectal phenotype attenuated, 108 polyps proximal accentuated; colectomy 42y 1 1 Stefan Aretz
00013662 - - - M - Germany - - - yes (pedigree) - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00033858 - PubMed: Heon 1998 4-generation family, 18 affecteds - - Switzerland;Macedonia - - 0 - - CTRCT-2;CCL cataract, Coppock-like; aculeiform cataract 1 18 Johan den Dunnen
00033859 - - 7-generation family, 30 affecteds - - United States - - 0 - - CTRCT with variable zonular pulverulent; severity varied fromsubtle unilateral zonular pulverulent cataract not impairing visual function to dense bilateral nuclear cataracts resulting in blindness 1 30 Johan den Dunnen
00033860 - - 4-generation family, mother and 2 children F - India - - 0 - - CTRCT congenital lamellar cataract 1 3 Johan den Dunnen
00033861 - - - - - India - - 0 - - CTRCT congenital 1 3 Johan den Dunnen
00033922 - - family, 3 affecteds - - Mexico - - 0 - - CTRCT congenital 1 3 Johan den Dunnen
00033969 - PubMed: Heon 1998 5-generation family, 4 affecteds - - Switzerland - - 0 - - CTRCT-2;CCL cataract, Coppock-like; aculeiform cataract 1 4 Johan den Dunnen
00033970 - PubMed: Heon 1998 4-generation family, 3 affecteds - - Switzerland - - 0 - - CTRCT-2;CCL cataract, Coppock-like; aculeiform cataract 1 3 Johan den Dunnen
00033971 - - - - - India - - 0 - - CTRCT congenital 1 1 Johan den Dunnen
00033972 - - 4-generation family, 9 affecteds - - Mexico - - 0 - - CTRCT congenital 1 9 Johan den Dunnen
00033973 - - 3-generation family, 7 affecteds - - China - - 0 - - CTRCT congenital; nuclear 1 7 Johan den Dunnen
00033974 - - 4-generation family, 7 affecteds - - China - - 0 - - CTRCT congenital; nuclear cataracts, microcornea 1 7 Johan den Dunnen
00033989 - - - - - Brazil - - 0 - - CTRCT - 1 5 Johan den Dunnen
00033994 - - affected father, son and daugther - - India - - 0 - - CTRCT congenital; lamellar 1 3 Johan den Dunnen
00034019 - - 3-generation family F - China chinese - 0 - - CTRCT congenital, nuclear cataract, 1 1 Lu Cailing
00034022 - - - - - Australia - - 0 - - CTRCT cataract, nuclear, microphthalmia 1 1 Ivan Prokudin
00065031 - PubMed: Gillespie 2014, Journal: Gillespie 2014 3-generation family, 1 affected, no family hostory F yes - - - 0 - - CCTRCT nuclear cataract; microcornea; likely dominant inheritance 1 1 Johan den Dunnen
00065040 - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected sister, mother, maternal grandfather M no - - - 0 - - CCTRCT nuclear, lamellar cataract 1 4 Johan den Dunnen
00073116 23441109-FamBPatMC13 PubMed: Kondo 2013 2-generation family, 3 affecteds (F, 2M) F - Korea Korean - 0 - - CCTRCT nystagmus (HP:0000639), amblyopia (HP:0000646), no systemic abnormalities (-HP:?), no intellectual disability (-HP:0001249), no developmental malformation (-HP:?), no intrauterine infection (-HP:?), no metabolic disease (-HP:?) 1 3 Jamie Zeegers
00073118 23441109-FamBPatMC14 PubMed: Kondo 2013 PatMC13 M - Korea Korean - 0 - - CCTRCT nystagmus (HP:0000639), amblyopia (HP:0000646), no systemic abnormalities (-HP:?), no intellectual disability (-HP:0001249), no developmental malformation (-HP:?), no intrauterine infection (-HP:?), no metabolic disease (-HP:?) 1 1 Jamie Zeegers
00073184 22876111-FamPatII7 PubMed: Guo 2012 4-generation family, 6-affecteds (4F,2M), PatII7 M - China Chinese >08y 0 - - CCTRCT bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646) 1 6 Jamie Zeegers
00073186 22876111FamPatI2 PubMed: Guo 2012 PatI2 M - China Chinese >68y 0 - - CCTRCT bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646) 1 1 Jamie Zeegers
00073189 22876111FamPatIII6 PubMed: Guo 2012 PatIII6 F - China Chinese - 0 - - CCTRCT bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646) 1 1 Jamie Zeegers
00073190 22876111-FamPatIV1 PubMed: Guo 2012 PatIV1 F - China Chinese >01y 0 - - CCTRCT bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646) 1 1 Jamie Zeegers
00073191 22876111-FamPatII2 PubMed: Guo 2012 PatII2 F - China Chinese >13y 0 - - CCTRCT bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646) 1 1 Jamie Zeegers
00073192 22876111-FamPatIII3 PubMed: Guo 2012 PatIII3 F - China Chinese >06y 0 - - CCTRCT bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646) 1 1 Jamie Zeegers
00102738 - - - M no China Chinese - 0 - - CTRCT - 1 1 Zongfu Cao
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