All individuals with variants in gene FRMD7

56 entries on 1 page. Showing entries 1 - 56.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 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) 2 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 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) 1 1 Yu Sun
00035871 - - 2-generation family, affected male and heterozygous carrier mother M - Germany - - 0 - - NYS-1 congenital nystagmus 1 1 Andreas Laner
00035872 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035873 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035874 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035875 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00050453 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected and affected2nd degree relatives M - United Kingdom (Great Britain) - - 0 Decipher - ? congenital nystagmus, cerebral palsy, seizures, low-set ears 1 1 Johan den Dunnen
00088176 NYS-001 PubMed: Thomas 2017, Journal: Thomas 2017 3-generation family, 2 affected F;M - United Kingdom (Great Britain) - - 0 - - NYS-1 BCVA - 0.2 LogMAR Horizontal Jerk nystagmus 1 2 Mervyn Thomas
00088178 NYS-003 PubMed: Thomas 2017, Journal: Thomas 2017 4-generation family, 10 affected (3F, 7M) F;M - United Kingdom (Great Britain) - - 0 - - NYS-1 BCVA 0.18 LogMAR Horizontal Jerk with periodic alternating nystagmus 1 10 Mervyn Thomas
00088182 NYS-007 PubMed: Thomas 2017, Journal: Thomas 2017 4-generation family, 5 affected (3F, 2M) F;M - United Kingdom (Great Britain) - - 0 - - NYS-1 BCVA 0.18 Horizontal jerk nystagmus 1 3 Mervyn Thomas
00173108 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 16 Lucy Raymond
00173109 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 15 Lucy Raymond
00173110 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00173111 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00173112 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 61 Lucy Raymond
00173113 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 19 Lucy Raymond
00173114 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 9 Lucy Raymond
00183319 30290152-FamF385 PubMed: Ansar 2018 5-generation family, 9 affected (5F, 4M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - 0 - - CTRCT see paper; ..., infantile or early-childhood cataracts and visual impairment 1 9 Johan den Dunnen
00294936 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 55 Mohammed Faruq
00305267 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 29 Mohammed Faruq
00311040 - - - F - - - - 0 - - ? Nystagmus (HP:0000639) 1 1 IMGAG
00320076 172087 - - M ? Germany - - 0 - - NYS-1 Congenital nystagmus, possible foveal hypoplasia 1 1 Andreas Laner
00324433 F3:III-1 - - M - - - - - - - NYS-1 Reduced VA (0.425 logmar BE), Nystagmus, grade 1 foveal hypoplasia, 1 2 Mervyn Thomas
00332405 Pat26 PubMed: Essilfie 2018 - F - Korea - - 0 - - retinal disease horizontal jerk nystagmus; fundus grossly normal; no oculodigital sign 1 1 LOVD
00332406 Pat27 PubMed: Essilfie 2018 - M - Korea - - 0 - - retinal disease horizontal pendular nystagmus; fundus grossly normal; no oculodigital sign 1 1 LOVD
00379746 IR_GH_0088 - - F - Korea, South (Republic) - - 0 - - retinal disease HP:0032037, HP:0000639, HP:0000007, HP:0007750 1 1 Jinu Han
00379807 IR_GH_0173 - - M - Korea, South (Republic) - - 0 - - retinal disease HP:0032037, HP:0000639 1 1 Jinu Han
00379839 2016121204 PubMed: Wang 2018 - M ? China Han Chinese - 0 - - retinal disease - 1 1 LOVD
00382169 9205558 - - M - Korea, South (Republic) - - 0 - - ? HP:0001423, HP:0006934 1 1 Jinu Han
00382170 8605973 - - M - Korea, South (Republic) - - 0 - - ? HP:0001423, HP:0006934 1 1 Jinu Han
00382171 9347161 - - M - Korea, South (Republic) - - 0 - - ? HP:0001423, HP:0006934 1 1 Jinu Han
00382172 7788128 - - F - Korea, South (Republic) - - 0 - - ? HP:0001423, HP:0006934 1 1 Jinu Han
00382173 9046847 - - M - Korea, South (Republic) - - 0 - - ? HP:0001423, HP:0006934 1 1 Jinu Han
00382174 7364197 - - M - Korea, South (Republic) - - 0 - - ? HP:0001423, HP:0006934 1 1 Jinu Han
00382175 7915474 - - F - Korea, South (Republic) - - 0 - - ? HP:0001423, HP:0006934 1 1 Jinu Han
00382176 6038593 - - M - Korea, South (Republic) - - 0 - - ? HP:0001423, HP:0006934 1 1 Jinu Han
00382177 9265908 - - F - Korea, South (Republic) - - 0 - - ? HP:0001423, HP:0006934 1 1 Jinu Han
00382178 8224311 - - M - Korea, South (Republic) - - 0 - - ? HP:0001423, HP:0006934 1 1 Jinu Han
00382179 9125089 - - M - Korea, South (Republic) - - 0 - - ? HP:0001423, HP:0006934 1 1 Jinu Han
00382180 3088013 - - M - Korea, South (Republic) - - 0 - - ? HP:0001423, HP:0006934 1 1 Jinu Han
00382181 9327538 - - M - Korea, South (Republic) - - 0 - - ? HP:0001423, HP:0006934 1 1 Jinu Han
00382182 10019983 - - M - Korea, South (Republic) - - - - - ? HP:0001423, HP:0006934 1 1 Jinu Han
00382183 7575041 - - M - Korea, South (Republic) - - - - - ? HP:0001423, HP:0006934 1 1 Jinu Han
00382184 5485887 - - M - Korea, South (Republic) - - - - - ? HP:0001423, HP:0006934 1 1 Jinu Han
00382185 9295777 - - M - Korea, South (Republic) - - - - - ? HP:0001423, HP:0006934 1 1 Jinu Han
00382186 9228996 - - M - Korea, South (Republic) - - - - - ? HP:0001423, HP:0006934 1 1 Jinu Han
00382187 9225723 - - M - Korea, South (Republic) - - - - - ? HP:0001423, HP:0006934 1 1 Jinu Han
00382188 7805518 - - M - Korea, South (Republic) - - - - - ? HP:0001423, HP:0006934 1 1 Jinu Han
00382189 8216321 - - M - Korea, South (Republic) - - - - - ? HP:0001423, HP:0006934 1 1 Jinu Han
00382190 10050576 - - M - Korea, South (Republic) - - - - - ? HP:0001423, HP:0006934 1 1 Jinu Han
00384258 13219 PubMed: Wang 2019 - M - China - - 0 - - NYS-1 - 1 1 LOVD
00384294 13503 PubMed: Wang 2019 - M - China - - 0 - - NYS-1 - 1 1 LOVD
00384309 13595 PubMed: Wang 2019 - F - China - - 0 - - NYS-1 - 1 1 LOVD
00384374 14063 PubMed: Wang 2019 - M - China - - 0 - - NYS-1 - 1 1 LOVD
00393607 - PubMed: Liu-2020 - M - - - - 0 - - retinal disease - 1 1 LOVD
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