All individuals with variants in gene GJA8

27 entries on 1 page. Showing entries 1 - 27.
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00050448 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? abnormality of the eye, bilateral microphthalmos, microphthalmos, bilateral microphthalmos, congenital cataract, anterior segment dysgenesis, hypoplasia of the iris, persistent pupillary membrane 1 1 Johan den Dunnen
00050487 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? global developmental delay, microcephaly, seizures 1 1 Johan den Dunnen
00050570 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected father/child F - United Kingdom (Great Britain) - - 0 Decipher - ? brachycephaly, gastroesophageal reflux, delayed speech and language development, global developmental delay 1 2 Johan den Dunnen
00060062 - - 1 familie, 3 patients M - China Han - 0 - - CTRCT cataract, congenital 1 1 Juhua Yang
00060073 - - - - - United Kingdom (Great Britain) - - 0 - - CTRCT1 - 1 1 Johan den Dunnen
00060074 - - - - - Pakistan - - 0 - - CTRCT1 - 1 1 Johan den Dunnen
00060075 - - - - - Russian Federation - - 0 - - CTRCT1 - 1 1 Johan den Dunnen
00060076 - - - - - Iran - - 0 - - CTRCT - 1 1 Johan den Dunnen
00060077 - - - - - India - - 0 - - CTRCT1 - 1 1 Johan den Dunnen
00060078 - - - - - - - - 0 - - CTRCT1 - 1 1 Johan den Dunnen
00060079 - - - - - China - - 0 - - CTRCT1 - 1 1 Johan den Dunnen
00060094 - - - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00060205 - - - - - Australia - - 0 - - CTRCT - 1 1 Ivan Prokudin
00060210 - - - M no China - - 0 - - CTRCT cataract, congenital 1 1 Juhua Yang
00065032 - PubMed: Gillespie 2014, Journal: Gillespie 2014 no family history M yes - - - 0 - - CCTRCT nuclear, lamellar cataract, posterior capsule opacity 1 1 Johan den Dunnen
00065034 - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected mother and maternal grandfather F no - - - 0 - - CCTRCT total cataract; amblyopia, convergent squint, all other measurements within normal range 1 3 Johan den Dunnen
00102742 - - - F no China Chinese - 0 - - CTRCT - 1 1 Zongfu Cao
00102748 - - - F no China - - 0 - - CTRCT - 1 1 Zongfu Cao
00363787 G462 PubMed: Huang 2015 family M - China - - 0 - - glaucoma see paper; ... 1 1 LOVD
00380447 WHP37 PubMed: Sun 2018 - M - China - - 0 - - ? - 1 1 LOVD
00380457 WHP52 PubMed: Sun 2018 - M - China - - 0 - - ? - 1 1 LOVD
00380465 WHP73 PubMed: Sun 2018 - M - China - - 0 - - ? - 1 1 LOVD
00380475 WHP89 PubMed: Sun 2018 - F - China - - 0 - - ? - 1 1 LOVD
00382149 288 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - 0 - - MCOPS-9 congenital cataract; MIM, 600897 1 1 LOVD
00384435 14525 PubMed: Wang 2019 - F - China - - 0 - - CTRCT1 - 1 1 LOVD
00385452 11012212 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - 0 - - retinal disease - 1 1 LOVD
00385477 15018151 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - 0 - - retinal disease - 1 1 LOVD
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