All individuals with variants in gene NHS

32 entries on 1 page. Showing entries 1 - 32.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 5 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 4 1 Yu Sun
00065055 - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected maternal great grandmother, maternal cousins M no - - - - - - CCTRCT L: dense nuclear cataract; R: nuclear cataract, lamellar, posterior polar; L: hypoplastic iris, nystagmus; severe mental retardation 1 3 Johan den Dunnen
00106135 - - - M no (Belgium) - - - - - NHS congenital diaphragmatic hernia (HP:0000776 ), congenital cataract (HP:0000519) 1 1 Molka Kammoun
00173116 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 3 Lucy Raymond
00173117 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00173118 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00173119 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00173120 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 2 Lucy Raymond
00173121 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 2 Lucy Raymond
00173122 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00173123 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 9 Lucy Raymond
00173124 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00183167 25644381-FamT149 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - - - - MRX;IDX - 1 2 Johan den Dunnen
00294999 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 13 Mohammed Faruq
00302949 Pat5 PubMed: Fieremans 2016 - F - - - - - - - ID see paper; ..., mild intellectual disability, autism spectrum disorder, congenital cataract microphthalmia, abnormal teeth 1 1 Johan den Dunnen
00305287 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 8 Mohammed Faruq
00324493 173214 - - M ? Saudi Arabia - - - - - NHS (+) Abnormality of the lens,(+) Cataract / Cataracta congenita, no family history of cataract 1 1 Andreas Laner
00336008 - PubMed: Sergouniotis 2016 analysis 181 cases - - United Kingdom (Great Britain) - - - - - CTRCT - 1 1 LOVD
00374788 S-1100 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00384308 13587 PubMed: Wang 2019 - M - China - - - - - retinal disease - 1 1 LOVD
00385465 14022259 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00392274 27 PubMed: Bell 2021 - M no (United Kingdom (Great Britain)) - - - - - retinal disease aphakia nystagmus, marfan syndrome 1 1 LOVD
00392277 37 PubMed: Bell 2021 - M no (United Kingdom (Great Britain)) - - - - - retinal disease nuclear 1 1 LOVD
00412197 199898 - - M no - - - - - - NHS Developmental cataract, Abnormality of eye movement, Nystagmus, Hypospadias, Motor delay, Amblyopia, Global developmental delay 1 1 Andreas Laner
00414419 WHP86 PubMed: Sun 2018 - F - China - - - - - ? - 1 1 LOVD
00434076 Pat32 PubMed: Li 2016 - - - China - - - - - CTRCT bilateral cortical cataract 1 1 Johan den Dunnen
00434083 Pat59 PubMed: Li 2016 - - - China - - - - - CTRCT bilateral nuclear cataract 1 1 Johan den Dunnen
00434129 Fam1PatII1 PubMed: Li 2019 2-generation family, affected mother/son M - China - - - - - CTRCT see paper; ..., nuclear cataract, white opacities 1 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
00434251 Fam24533 PubMed: Jackson 2020 - - - United Kingdom (Great Britain) white - - - - ? - 1 1 Johan den Dunnen
00440468 PED3300.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
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