All individuals with variants in gene BBS7

114 entries on 2 pages. Showing entries 1 - 100.
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Disease     
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00046459 - - - - - Russian Federation - - - - - BBS - 1 1 Evgeny Suspitsin
00050583 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, intellectual disability 2 1 Johan den Dunnen
00154972 - - - F - (Germany) - - - - - ? Global developmental delay (HP:0001263); Obesity (HP:0001513); Abnormality of the cardiovascular system (HP:0001626) 1 1 IMGAG
00239141 FamPatIII2 PubMed: Shaukat 2019 3-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives heterozygous carriers M yes Pakistan Asian - - - - ? height 124cm (-3.4 SD), polydactyly, walking difficulties, speech impairment, no blindness, macrocephaly, alopecia, scoliosis, cutis laxa, no umbilical hernia, facial coarsening 1 5 Sadaf Naz
00265912 FamPatIII1 PubMed: Shaukat 2019 - F yes Pakistan - - - - - BBS height 139cm (-3.5 SD), polydactyly, walking difficulties, speech impairment, blindness, no macrocephaly, no alopecia, no scoliosis, no cutis laxa, no umbilical hernia, no facial coarsening 1 1 Sadaf Naz
00265913 FamPatIII3 PubMed: Shaukat 2019 - M yes Pakistan - - - - - BBS height 126cm (-0.1 SD), no polydactyly, walking difficulties, speech impairment, blindness, no macrocephaly, no alopecia, no scoliosis, no cutis laxa, no umbilical hernia, no facial coarsening 1 1 Sadaf Naz
00265914 FamPatIII4 PubMed: Shaukat 2019 - F yes Pakistan - - - - - MACS height 111cm (-0.6 SD), no polydactyly, no walking difficulties, no speech impairment, no blindness, macrocephaly, no alopecia, no scoliosis, no cutis laxa, umbilical hernia, facial coarsening 1 1 Sadaf Naz
00265915 FamPatIII5 PubMed: Shaukat 2019 - - yes Pakistan - - - - - MACS height 96cm (-1.3 SD), no polydactyly, no walking difficulties, no speech impairment, no blindness, macrocephaly, alopecia, scoliosis, no cutis laxa, umbilical hernia, facial coarsening 1 1 Sadaf Naz
00276326 - - - M yes Turkey - 05y - - - BBS7 Obesity Polydactyly ID Renal abnormalities Genital abnormalities Behavioral problems Facial dysmorphism Cardiac abnormalities 1 1 Evren Gümüş
00293530 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 9 Mohammed Faruq
00293531 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00293532 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00304978 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00308969 - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00308970 - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00328504 15021050 PubMed: Taylor 2017 no family history retinal disease F - United Kingdom (Great Britain) - - - - - retinal disease cone-rod dystrophy (HP:0000510), polydactyly (HP:0010442), obesity (HP:0001513) 1 1 LOVD
00358811 AR888-0311 PubMed: Lindstrand 2016 - M no United States - - - - - BBS see paper; ... 1 1 LOVD
00358814 AR634-03 PubMed: Lindstrand 2016 - F no United States - - - - - BBS see paper; ... 2 1 LOVD
00358817 44/311 PubMed: Lindstrand 2016 - M no United States - - - - - BBS see paper; ... 1 1 LOVD
00358961 Case24058 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - retinal disease see paper; ... 1 1 LOVD
00359023 12014789 PubMed: Ellingford 2016 patient - - - - - - - - retinal disease - 1 1 LOVD
00363433 Pat9 PubMed: Ece Solmaz 2015 patient - - Turkey - - - - - retinal disease see paper; ... 1 1 LOVD
00363435 Pat11 PubMed: Ece Solmaz 2015 patient - - Turkey - - - - - retinal disease see paper; ... 1 1 LOVD
00363590 09DG00644 PubMed: Patel 2016 - - - Saudi Arabia - - - - - retinal disease syndromic 1 1 LOVD
00363599 09DG01063 PubMed: Patel 2016 - - - Saudi Arabia - - - - - retinal disease syndromic 1 1 LOVD
00373881 OGI-454-958 PubMed: Consugar 2015 - - - United States - - - - - retinal disease see paper; ... 2 1 LOVD
00379360 - PubMed: Harville-2010 - - no - North European - - - - retinal disease Retinitis pigmentosa, polydactyly, obesity, hypogonadism, renal anomalies, mental retardation, developmental delay, hypotonia, shortfingers 1 1 LOVD
00379361 - PubMed: Harville-2010 - - no - North European - - - - retinal disease Retinitis pigmentosa, polydactyly, obesity, mental retardation, hypotonia, shortfingers 1 1 LOVD
00379362 - PubMed: Harville-2010 - - yes Turkey - - - - - retinal disease polydactyly, obesity, hypogonadism, renal anomalies 1 1 LOVD
00379363 - PubMed: Harville-2010 - - yes Turkey - - - - - retinal disease Retinitis pigmentosa, polydactyly, obesity, hypogonadism 1 1 LOVD
00379364 - PubMed: Harville-2010 - - yes Israel Arab - - - - retinal disease Retinitis pigmentosa, polydactyly, obesity, 1 1 LOVD
00379365 - PubMed: Harville-2010 - - yes Israel Arab - - - - retinal disease Retinitis pigmentosa, polydactyly, obesity, mental retardation, developmental delay, shortfingers 1 1 LOVD
00379812 2016082404 PubMed: Wang 2018 - M ? China Han Chinese - - - - retinal disease - 2 1 LOVD
00380352 - PubMed: M'hamdi_2014 - M yes Tunisia Tunisian - - - - retinal disease Anemia, arterial hypertension. Retinitis pigmentaria 1 1 LOVD
00380355 - PubMed: M'hamdi_2014 - M yes Tunisia Tunisian - - - - retinal disease retinitis pigmentaria 1 1 LOVD
00381017 - PubMed: Chen-2013 - F - China Chinese - - - - retinal disease - 1 1 LOVD
00381239 - PubMed: Wang-2013 patient carry homozygous novel missense mutation in other retinal disease genes. BBS - no - - - - - - retinal disease - 1 1 Julia Lopez
00382494 356 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - retinal disease - 1 1 LOVD
00383117 - PubMed: Hichri-2005 - - - France white - - - - retinal disease - 1 1 LOVD
00383194 - PubMed: Bin-2009 - F - - Italian - - - - retinal disease obesity, brachydactyly/clinodactyly/ polydactyly, severe cognitive impairment, developmental delay 2 1 LOVD
00383195 - PubMed: Bin-2009 - M - - Italian - - - - retinal disease obesity, brachydactyly, moderate cognitive impairment, developmental delay, hypogonadism 2 1 LOVD
00383196 - PubMed: Bin-2009 - F - - Peruvian - - - - retinal disease obesity, polydactyly, mild cognitive impairment, developmental delay 2 1 LOVD
00383197 - PubMed: Bin-2009 - - - - Russian - - - - retinal disease - 1 1 LOVD
00383225 - PubMed: Muller-2010 - - - - white - - - - retinal disease - 1 1 LOVD
00383241 - PubMed: Muller-2010 - - - - white - - - - retinal disease - 2 1 LOVD
00383243 - PubMed: Muller-2010, PubMed: Stoetzel 2006 - - - - North Africa - - - - retinal disease - 1 3 LOVD
00383375 - PubMed: Eichers-2009, Katsanis 2001 - - - - - - - - - retinal disease - 1 1 LOVD
00383654 3 PubMed: Manara 2019 - M - - - - - - - retinal disease - 1 1 LOVD
00384681 - PubMed: Feuillan-2011 - - - - - - - - - retinal disease - 2 1 LOVD
00384682 - PubMed: Feuillan-2011 - - - - - - - - - retinal disease - 1 1 LOVD
00384683 - PubMed: Feuillan-2011 - - - - - - - - - retinal disease - 2 1 LOVD
00384808 - PubMed: Abu-Safieh-2012 2 unaffected siblings screened - yes Saudi Arabia Arab - - - - retinal disease obesity, polydactyly, typical facies 1 1 LOVD
00384809 - PubMed: Abu-Safieh-2012 3 unaffected siblings screened - yes Saudi Arabia Arab - - - - retinal disease obesity, mental retardation, renal disease, polydactyly, aopy, typical facies, hypogenitalism 1 1 LOVD
00384810 - PubMed: Abu-Safieh-2012 3 unaffected siblings screened - yes Saudi Arabia Arab - - - - retinal disease obesity, mental retardation, renal disease, polydactyly, aopy, typical facies 1 1 LOVD
00384811 - PubMed: Abu-Safieh-2012 3 unaffected siblings screened - yes Saudi Arabia Arab - - - - retinal disease obesity, mental retardation, renal disease, polydactyly, aopy, typical facies 1 1 LOVD
00384823 - PubMed: Abu-Safieh-2012 2 unaffected siblings screened - yes Saudi Arabia Arab - - - - retinal disease obesity, mental retardation, renal disease, polydactyly, typical facies, ventricular septal defect 1 1 LOVD
00384826 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 3 unaffected siblings screened - yes Saudi Arabia Arab - - - - retinal disease obesity, mental retardation, polydactyly, typical facies 1 1 LOVD
00384832 - PubMed: Abu-Safieh-2012 2 unaffected siblings screened - yes Saudi Arabia Arab - - - - retinal disease obesity, polydactyly, hydrometrocolpos 1 1 LOVD
00384833 - PubMed: Abu-Safieh-2012 2 unaffected siblings screened - yes Saudi Arabia Arab - - - - retinal disease obesity, polydactyly, hydrometrocolpos 1 1 LOVD
00384839 - PubMed: Abu-Safieh-2012 - - yes Saudi Arabia Arab - - - - retinal disease obesity, mental retardation, polydactyly, deafness, 1 1 LOVD
00385185 - PubMed: Chen-2011 - - - - white - - - - retinal disease - 1 1 LOVD
00385219 - PubMed: Chen-2011 - - - - white - - - - retinal disease - 1 1 LOVD
00385220 - PubMed: Chen-2011 - - - - white - - - - retinal disease - 1 1 LOVD
00385221 - PubMed: Chen-2011 - - - - white - - - - retinal disease - 1 1 LOVD
00385249 - PubMed: Redin-2012 - - - Tunisia - - - - - retinal disease - 1 1 LOVD
00385282 - PubMed: M'hamdi-2014 - M yes Tunisia Tunisian - - - - retinal disease obesity, retinitis pigmentosa, polydactyly, hypogenitalism,mental retardation, anemia HTA 1 1 LOVD
00385287 - PubMed: M'hamdi-2014 - M yes Tunisia Tunisian - - - - retinal disease obesity, retinitis pigmentosa, polydactyly, hypogenitalism,mental retardation 1 1 LOVD
00385331 - PubMed: Deveault-2011 - M - - Ghanian - - - - retinal disease retinal dystrophy, weight anomaly, digit anomaly, renal structure anomaly, Liver fx 1 1 LOVD
00385350 - PubMed: Deveault-2011 - F - - white - - - - retinal disease retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, Scoliosis, Osteopenia, DislipidemiaCholelithiasis 2 1 LOVD
00385351 - PubMed: Deveault-2011 - M - - French - - - - retinal disease retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Scoliosis, Liver fx, Dislipidemia 2 1 LOVD
00385352 - PubMed: Deveault-2011 - F - - French - - - - retinal disease retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Liver str, Dislipidemia, HyperinsulinemiaOvarian cyst, Hyperphagia, Depression, OCD 2 1 LOVD
00385565 AR14(A2824)-4 PubMed: Janssen-2011 - - - - Northern-Europe - - - - retinal disease retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, renal anomalies, MR 1 1 LOVD
00385601 AR634(A2862)-II1 PubMed: Janssen-2011 - - - - Northern-Europe - - - - retinal disease Retinitis pigmentosa, obesity, hypogonadism? 1 1 LOVD
00385638 44/3 PubMed: Lindstrand-2014 - M - Israel Israeli - - - - retinal disease retinitis pigmentosa, polydactyly, obesity, hypogonadism, developmental delay, born with one kidney; chronic renal failure; kidney transplantation 1 1 LOVD
00385639 44/4 PubMed: Lindstrand-2014 - F - Israel Israeli - - - - retinal disease retinitis pigmentosa, polydactyly, obesity, developmental delay 1 1 LOVD
00385945 - PubMed: Fattahi-2014 - - - - Fars - - - - retinal disease obesity, rp, myopia, polydactyly hand, polydactyly feet, renal anomaly, hypogonadisma, speech disorder, Nystagmus, congenital-cardiac-anomaly, behavioral 2 1 LOVD
00387550 - PubMed: Knopp 2015 Father M yes - - - - - - retinal disease - 1 1 LOVD
00387551 - PubMed: Knopp 2015 Patient (mother) F yes - - - - - - retinal disease - 1 1 LOVD
00387552 - PubMed: Knopp 2015 - M yes - - - - - - retinal disease - 1 1 LOVD
00387553 - PubMed: Knopp 2015 - F yes - - - - - - retinal disease - 1 1 LOVD
00387597 - PubMed: Hirano 2015 - F no Japan Japanese - - - - retinal disease - 1 1 LOVD
00388298 P01 PubMed: Tao 2020 - M - China - - - - - retinal disease - 2 1 LOVD
00388299 P02 PubMed: Tao 2020 - M - China - - - - - retinal disease - 1 1 LOVD
00388304 A:IV-3 PubMed: Ullah-2017 - M yes Pakistan - - - - - retinal disease retinitis pigmentosa, polydactyly right feet, obesity, hypogonadism, cognitive Impairment, syndactyly right foot, 2–3 toes 1 1 LOVD
00388305 A:IV-4 PubMed: Ullah-2017 - M yes Pakistan - - - - - retinal disease retinitis pigmentosa, polydactyly both hands and feet, obesity, hypogonadism, cognitive Impairment, syndactyly both feet, 5–6 toes 1 1 LOVD
00388306 A:IV-5 PubMed: Ullah-2017 - M yes Pakistan - - - - - retinal disease retinitis pigmentosa, polydactyly both hands, obesity, hypogonadism, cognitive Impairment, syndactyly both feet, 2–3 toes 1 1 LOVD
00388307 B:IV-2 PubMed: Ullah-2017 - M yes Pakistan - - - - - retinal disease retinitis pigmentosa, polydactyly both feet, hypogonadism 1 1 LOVD
00388308 B:IV-4 PubMed: Ullah-2017 - M yes Pakistan - - - - - retinal disease retinitis pigmentosa, polydactyly both hands, obesity, hypogonadism, cognitive Impairment 1 1 LOVD
00388309 B:IV-7 PubMed: Ullah-2017 - M yes Pakistan - - - - - retinal disease retinitis pigmentosa, polydactyly both feet, obesity, hypogonadism, cognitive Impairment 1 1 LOVD
00388310 B:V-1 PubMed: Ullah-2017 - M yes Pakistan - - - - - retinal disease ?, polydactyly both hands and feet, obesity, cognitive Impairment 1 1 LOVD
00388530 5 PubMed: Hirano 2020 - F no Japan - - - - - retinal disease intellectual disability, rod-cone dystrophy, obesity, polydactyly, mild pyelectasis, BMI: 24.7, strabismus, dental crowding, cardiac anomaly 1 1 LOVD
00388816 100 PubMed: Weisschuh 2020 Filing key number: 47, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 2 1 LOVD
00388862 146 PubMed: Weisschuh 2020 Filing key number: 62, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given F - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00391215 4 PubMed: Gumus 2021 - M - Turkey - - - - - retinal disease BMI: 31.9, polydactyly, severe intellectual disability, renal abnormalities, genital abnormalities, no developmental delay, behavioral problems, Persistent left vena cava superior, Legg-Calve-Perthes and accessory nipple BBS7 c.849+1G > T 1 1 LOVD
00391377 45 {PMID:Méjécase 2020:3278337 - ? - United Arab Emirates - - - - - retinal disease - 1 1 LOVD
00392774 F7-II:1 PubMed: Meng 2021 - M no China - - - - - retinal disease BMI: 26.3no data, no intellectual disabilityno datano datano data, tooth abnormalities, short statureno datano datano datano data–, best corrected visual acuity right/left eye: 0.2/0.2, fundus: macular atrophy, optic disk pallor, osteocyte cell-like pigment deposition, pattern visual evoked potential: –, flash visual evoked potential: moderately reduced amplitude, mild delay, full-field flash electroretinography: unrecordable, multifocal electroretinograph 1 1 LOVD
00392775 F8-II:1 PubMed: Meng 2021 - F no China - - - - - retinal disease BMI: 41.42, polydactyly, intellectual disability, no gonadal abnormalities, no renal abnormalities, no hearing loss, tooth abnormalities, short stature, no cardiac abnormalities, blood sugar normal, blood pressure normal, lipid levels normal, exotropia, best corrected visual acuity right/left eye: 0.3/0.3, fundus: retinitis pigment disorder, pattern visual evoked potential: –, flash visual evoked potential: moderately reduced amplitude, mild delay, full-field flash electroretinography: unrecordable, multifocal electroretinography: 2 1 LOVD
00394475 - PubMed: Jeziorny-2020 - F - - - - - - - retinal disease - 1 1 LOVD
00395573 RP-0928 PubMed: Perea-Romero 2021 - - - Spain - - - - - retinal disease blepharitis, rod-cone dystrophy, obesity, elevated hepatic transaminases, hepatic steatosis, brachydactyly syndrome, postaxial hand polydactyly, brachycephaly, bilateral cryptorchidism, external genital hypoplasia, micrognathia 2 1 LOVD
00396589 - PubMed: Mary 2019 Fetus: term at 29 gestation weeks M - France - - - - - retinal disease Hydramnios, accessory spleen, absent 12th rib pair, polydactyly, postaxial, lower limbs, upper limbs, kidney abnormality, hyperechogenic kidneys, renal cysts, ovarian cyst, abnormal genital system morphology, hepatic anomaly 2 1 LOVD
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