All individuals with variants in gene BBS5

121 entries on 2 pages. Showing entries 1 - 100.
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AscendingIndividual ID     
ID_report     
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00001823 - - - - - (United States) - - - - - RP - 1 1 Feng Wang
00063830 - - - M yes Pakistan - - - - - BBS5 - 1 1 Muhammad Ajmal
00063831 - - - M yes Pakistan - - - - - BBS CRD/RP, intellectual disability, hypogonadism, bilateral renal calculi, Speech disability 1 1 Muhammad Ajmal
00063832 - - - F yes Pakistan - - - - - BBS CRD/RP, polydactyly, hypogonadism, developmental delay, irregular menstruation, low progesterone levels, diabetes, borderline hepatomegaly with fatty infiltration, abnormally high cholesterol level, elevated liver enzymes 1 1 Muhammad Ajmal
00165230 - - - M no Spain - - - - - BBS - 2 1 Sheila Castro-Sánchez
00276324 - - - M yes Turkey - 14y - - - BBS5 Obesity Rod cone dystrophy Polydactyly ID Renal abnormalities Developmental delay Diabetes mellitus Dental abnormalities Behavioral problems Facial dysmorphism 1 2 Evren Gümüş
00292364 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00308968 - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00328008 G001045 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - retinal disease - 3 1 LOVD
00332509 Pat34 PubMed: Avela 2018 - - - Finland - - - - - retinal disease see paper; ... 1 1 LOVD
00335087 5305 PubMed: Haer-Wigman 2017 family - no Netherlands - - - - - ? Bardet Biedl-like syndrome 2 1 LOVD
00335088 5159 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - ? Bardet Biedl-like syndrome 2 1 LOVD
00358811 AR888-0311 PubMed: Lindstrand 2016 - M no United States - - - - - BBS see paper; ... 1 1 LOVD
00358812 AR240-03 PubMed: Lindstrand 2016 - F no United States - - - - - BBS see paper; ... 1 1 LOVD
00358816 AR883-04 PubMed: Lindstrand 2016 - M no United States - - - - - BBS see paper; ... 1 1 LOVD
00359102 12010090 PubMed: Ellingford 2016 patient - - - - - - - - retinal disease - 1 1 LOVD
00362226 ? Fadaie 2021, submitted - - no Netherlands - - - - - retinal disease - 1 1 Zeinab Fadaie
00362923 CHRO391 PubMed: Weisschuh 2016 family - - Germany - - - - - retinal disease see paper; ... 1 1 LOVD
00363701 12DG1190 PubMed: Patel 2016 - - - Saudi Arabia - - - - - retinal disease syndromic 1 1 LOVD
00363716 12DG2322 PubMed: Patel 2016 - - - Saudi Arabia - - - - - retinal disease syndromic 1 1 LOVD
00379358 - PubMed: Harville-2010 - - yes Pakistan - - - - - retinal disease Retinitis pigmentosa, polydactyly, obesity, hypogonadism 1 1 LOVD
00379359 - PubMed: Harville-2010 - - yes Pakistan - - - - - retinal disease Retinitis pigmentosa, polydactyly, hypogonadism 1 1 LOVD
00380353 - PubMed: M'hamdi_2014 - F yes Tunisia Tunisian - - - - retinal disease Facial palsy,retinitis pigmentaria 1 1 LOVD
00380364 - PubMed: M'hamdi_2014 - F yes Tunisia Tunisian - - - - retinal disease retinitis pigmentaria 1 1 LOVD
00381730 - PubMed: Wang-2014 - - no - - - - - - retinal disease - 1 1 LOVD
00382218 47 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - retinal disease - 1 1 LOVD
00382808 - PubMed: Song-2011 - M - - - - - - - retinal disease - 1 1 LOVD
00383136 - PubMed: Sathya Priya-2015 - - - - - - - - - retinal disease obesity, polydactyly 1 1 LOVD
00383235 - PubMed: Muller-2010 - - - - North Africa - - - - retinal disease - 1 2 LOVD
00383236 - PubMed: Muller-2010 - - - - Algeria - - - - retinal disease - 1 5 LOVD
00383237 - PubMed: Muller-2010 - - - - North Africa - - - - retinal disease - 1 2 LOVD
00383466 RP1573 PubMed: Castro-Sanchez 2019 - F - Spain white - - - - retinal disease - 1 1 LOVD
00383467 RTP23 PubMed: Castro-Sanchez 2019 - M - Spain white - - - - retinal disease - 2 1 LOVD
00383699 1_IV-1 PubMed: Khan 2019 Family 1, individual IV-1 M yes Pakistan - - - - - retinal disease - 1 2 LOVD
00383700 1_IV-4 PubMed: Khan 2019 Family 1, individual IV-4 F yes Pakistan - - - - - retinal disease - 1 1 LOVD
00384605 FC51: II.2 PubMed: Jaffal 2019 - F no Lebanon - - - - - retinal disease Visual acuity: 20/100–20/1 1 1 LOVD
00384675 - PubMed: Feuillan-2011 - - - - - - - - - retinal disease - 1 1 LOVD
00384676 - PubMed: Feuillan-2011 - - - - - - - - - retinal disease - 1 1 LOVD
00384677 - PubMed: Feuillan-2011 - - - - - - - - - retinal disease - 2 1 LOVD
00384709 - PubMed: Billingsley-2010 - F - - British/Irish/Scottish - - - - retinal disease digit anomaly 1 1 LOVD
00384803 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 2 unaffected siblings screened - no Saudi Arabia Arab - - - - retinal disease obesity, mental retardation, polydactyly, typical facies, hypogenitalism 1 1 LOVD
00384838 - PubMed: Abu-Safieh-2012 - - yes Saudi Arabia Arab - - - - retinal disease - 1 1 LOVD
00385154 38 PubMed: Jiman 2020 - M - (United Kingdom (Great Britain)) - - - - - retinal disease HP:0000510 Rod-cone dystrophy; HP:0010864 Intellectual disability, severe; HP:0000054 Micropenis; HP:0004691 2-3 toe syndactyly; HP:0000819 Diabetes mellitus; HP:0001344 Absent speech; HP:0001513 Obesity; HP:0000708 Behavioural abnormality; HP:0001250 Seizures; HP:0011003 Severe Myopia; 1 1 LOVD
00385155 39 PubMed: Jiman 2020 - F - (United Kingdom (Great Britain)) - - - - - retinal disease HP:0000548 Cone/cone-rod dystrophy; HP:0010442 Polydactyly; HP:0001513 Obesity; HP:0001263 Global developmental delay; HP:0011003 Severe Myopia; 1 1 LOVD
00385217 - PubMed: Chen-2011 - - - - white - - - - retinal disease - 1 1 LOVD
00385218 - PubMed: Chen-2011 - - - - Tunisian - - - - retinal disease - 1 1 LOVD
00385237 - PubMed: Redin-2012 - - - France - - - - - retinal disease - 1 1 LOVD
00385250 - PubMed: Redin-2012 - - - Tunisia - - - - - retinal disease - 1 1 LOVD
00385253 - PubMed: Redin-2012 - - - Tunisia - - - - - retinal disease - 1 1 LOVD
00385254 - PubMed: Redin-2012 - - - Tunisia - - - - - retinal disease - 1 1 LOVD
00385283 - PubMed: M'hamdi-2014 - F yes Tunisia Tunisian - - - - retinal disease obesity, retinitis pigmentosa, polydactyly, hypogenitalism, facial palsy 1 1 LOVD
00385284 - PubMed: M'hamdi-2014 - F yes Tunisia Tunisian - - - - retinal disease obesity, retinitis pigmentosa, polydactyly, mental retardation, visual impairment 1 1 LOVD
00385302 - PubMed: Imhoff-2011 additional mutation - - - English/Irish/Scottish - - - - retinal disease - 1 1 LOVD
00385303 - PubMed: Imhoff-2011 additional mutation - - - Irish - - - - retinal disease - 1 1 LOVD
00385304 - PubMed: Imhoff-2011 additional mutation - - - Turkish - - - - retinal disease - 1 1 LOVD
00385305 - PubMed: Imhoff-2011 additional mutation - - - Turkish - - - - retinal disease - 1 1 LOVD
00385344 - PubMed: Deveault-2011 - M - - British - - - - retinal disease retinal dystrophy, weight anomaly, digit anomaly, developmental delay, developmental delay, developmental delay, Liver str,Psychosis, Teeth crowding, Small genitalia 1 1 LOVD
00385345 - PubMed: Deveault-2011 novel F - - French-Canadian - - - - retinal disease retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, Asthma, DislipidemiaTeeth crowding, Sleep apnea 1 1 LOVD
00385357 - 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, Hyperinsulinemia 1 1 LOVD
00385387 - PubMed: Deveault-2011 - F - - French - - - - retinal disease - 1 1 LOVD
00385558 A2507 PubMed: Janssen-2011 - - - Somalia - - - - - retinal disease retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, AN,FL,MR,PS 1 1 LOVD
00385597 AR364(A2849)-02 PubMed: Janssen-2011 - - - - Northern-Europe - - - - retinal disease Retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, renal anomalies 1 1 LOVD
00385598 AR755(A2867)d-03 PubMed: Janssen-2011 - - - - Northern-Europe - - - - retinal disease Retinitis pigmentosa, postaxial polydactyly, obesity, 1 1 LOVD
00387577 - PubMed: Scheidecker 2015 cone-rod distrophy, Syrian parents (2nd degree of consanguinity) and has a similarly affected older brother M yes - - - - - - retinal disease - 1 1 LOVD
00387595 - PubMed: Hirano 2015 novel M no Japan Japanese - - - - retinal disease - 2 1 LOVD
00387596 - PubMed: Hirano 2015 novel M no Japan Japanese - - - - retinal disease - 2 1 LOVD
00388507 15007281 PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - retinal disease - 1 1 LOVD
00388528 3 PubMed: Hirano 2020 - M no Japan - - - - - retinal disease intellectual disability, rod-cone dystrophy, obesity, hypogonadism, hepatic fibrosis, BMI: 29.7, 2 1 LOVD
00388529 4 PubMed: Hirano 2020 - M no Japan - - - - - retinal disease intellectual disability, rod-cone dystrophy, obesity, hypogonadism, polydactyly, BMI: 35.9, 2 1 LOVD
00388840 124 PubMed: Weisschuh 2020 Filing key number: 56, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00388841 125 PubMed: Weisschuh 2020 Filing key number: 56, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00389771 1055 PubMed: Weisschuh 2020 Filing key number: 654, cone-rod dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00390174 G001045 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - retinal disease - 2 1 LOVD
00390740 F22_II.2 PubMed: Habibi 2020 Family F22, patient II.2 M - Tunisia - - - - - retinal disease Visual acuity right eye/left eye: hand movement_hand movement, cone-rod dystrophy with bone spicule deposits and atrophy in the posterior pole and peripheral retina, macular atrophy 1 1 LOVD
00390741 F23_II.1 PubMed: Habibi 2020 Family F23, patient II.1 M - Tunisia - - - - - retinal disease Visual acuity right eye/left eye: 1/20_1/20, rare bone spicule shaped pigment deposits in the, mid periphery macular atrophy, macular atrophy 1 1 LOVD
00390806 - PubMed: Booij-2011 - - - - - - - - - retinal disease - 1 1 LOVD
00390832 - PubMed: Chandrasekar-2018 These mutations segregated with the disease and the parents were heterozygous for the same - - India Indian - - - - retinal disease - 1 1 LOVD
00391212 1 PubMed: Gumus 2021 brother of patient 2 M - Turkey - - - - - retinal disease BMI: 32.4, rod-cone dystrophy, polydactyly, severe intellectual disability, renal abnormalities, moderate developmental delay, diabetes mellitus, behavioral problems, Myopia, BBS5 c.682-2A > G 1 1 LOVD
00391213 2 PubMed: Gumus 2021 brother of patient 1 M - Turkey - - - - - retinal disease BMI: 26.6, rod-cone dystrophy, polydactyly, mild intellectual disability, genital abnormalities, liver anomalies, mild developmental delay, Pes equinovarus, BBS5 c.682-2A > G 1 1 LOVD
00395586 RP-1581 PubMed: Perea-Romero 2021 - - - Spain - - - - - ? early onset rod-cone dystrophy, myopia, delayed speech and language development, generalized myoclonic seizures, global developmental delay, intellectual disability, moderate, gait imbalance, dysmetria, pectus carinatum, kyphosis, absent eyebrow and eyelashes, narrow palate, alopecia, atopic dermatitis, dermal atrophy, excessive salivation, poor wound healing two previous variants already published in BBS1 and BBS5 1 1 LOVD
00395588 RP-1666 PubMed: Perea-Romero 2021 - - - Spain - - - - - retinal disease horizontal nystagmus, macular atrophy, photophobia, posterior subcapsular cataract, rod-cone dystrophy, red-green dyschromatopsia, obesity, delayed menarche, proteinuria, abnormality of the kidney, postaxial foot polydactyly, hiatus hernia, systemic lupus erythematosus 1 1 LOVD
00395603 RP-2634 PubMed: Perea-Romero 2021 - - - Spain - - - - - retinal disease photophobia, rod-cone dystrophy, fructose intolerance, postaxial hand and foot polydactyly 1 1 LOVD
00396577 - PubMed: Mary 2019 Fetus: term at 17 gestation weeks F - France - - - - - retinal disease polydactyly, postaxial, lower limbs, upper limbs, kidney abnormality, renal cysts, hepatic anomaly 2 1 LOVD
00396579 - PubMed: Mary 2019 Autopsy: term at birth F - France - - - - - retinal disease polydactyly, postaxial, lower limbs, upper limbs, kidney abnormality, oligoamnios 2 1 LOVD
00412548 F02_IV:I PubMed: Maria 2016 family F02 M yes - Pakistani - - - - retinal disease body mass index: 25.2; retinal degeneration; polydactyly; obesity: No; intellectual disability; hypogonadism; renal anomalies: bilateral renal calculi; additional features: hypodontia, syndactyly, brachydactyly, ataxia, speech disability, gall bladder calculi, mild spleno- and hepatomegaly, elevated liver enzymes, abnormally high cholesterol level 1 1 LOVD
00412549 F02_IV:2 PubMed: Maria 2016 family F02 M yes - Pakistani - - - - retinal disease body mass index: 25.1; retinal degeneration; no polydactyly; obesity: No; intellectual disability; hypogonadism; renal anomalies: bilateral renal calculi; additional features: speech disability 1 1 LOVD
00412550 F03_IV:2 PubMed: Maria 2016 family F03 F yes - Pakistani - - - - retinal disease body mass index: 26.6; retinal degeneration; polydactyly; obesity: No; no intellectual disability; hypogonadism; renal anomalies: none; additional features: developmental delay, irregular menstruation, low progesterone levels, diabetes, borderline hepatomegaly with fatty infiltration, abnormally high cholesterol level, elevated liver enzymes 1 1 LOVD
00417522 BBS_DG5a PubMed: Aldahmesh 2014 family BBS_DG5, individual a F yes Saudi Arabia - - - - - BBS obesity; intellectual disability; renal symptoms: hydronephrosis; retinitis pigmentosa; polydactyly; no deafness; no anosmia; no atopy; BBS facies; congenital heart disease: none; fatty liver: Y; no hypogenitalism 1 1 LOVD
00417523 BBS_DG5b PubMed: Aldahmesh 2014 family BBS_DG5, individual b F yes Saudi Arabia - - - - - BBS obesity; intellectual disability; renal symptoms: renal hypoplasia; retinitis pigmentosa; polydactyly; no deafness; anosmia; no atopy; BBS facies; congenital heart disease: none; fatty liver: unknown; no hypogenitalism 1 1 LOVD
00417524 BBS_DG5c PubMed: Aldahmesh 2014 family BBS_DG5, individual c F yes Saudi Arabia - - - - - BBS obesity; intellectual disability; renal symptoms: none; retinitis pigmentosa; polydactyly; no deafness; no anosmia; atopy; BBS facies; congenital heart disease: none; fatty liver: Y; no hypogenitalism 1 1 LOVD
00417525 BBS_DG5d PubMed: Aldahmesh 2014 family BBS_DG5, individual d F yes Saudi Arabia - - - - - BBS obesity; intellectual disability; renal symptoms: hydronephrosis; retinitis pigmentosa; no polydactyly; no deafness; no anosmia; atopy; BBS facies; congenital heart disease: none; fatty liver: Y; no hypogenitalism 1 1 LOVD
00418491 NFB9_06 PubMed: Li 2004 family NFB9 proband M no - - - - - - BBS - 1 1 LOVD
00418492 NFB9_07 PubMed: Li 2004 family NFB9 proband's sister F no - - - - - - BBS - 1 1 LOVD
00418493 KK63_03 PubMed: Li 2004 family KK63 proband M yes - - - - - - BBS - 1 1 LOVD
00418494 KK63_05 PubMed: Li 2004 family KK63 proband's brother M yes - - - - - - BBS - 1 1 LOVD
00418495 PB108_03 PubMed: Li 2004 family PB108 proband M yes - - - - - - BBS - 1 1 LOVD
00418496 PB127_03 PubMed: Li 2004 family PB127 proband M no - - - - - - BBS - 1 1 LOVD
00418497 AR291_03 PubMed: Li 2004 family AR291 proband F no - - - - - - BBS - 1 1 LOVD
00418498 AR291_05 PubMed: Li 2004 family AR291 proband's brother M no - - - - - - BBS - 1 1 LOVD
00418499 sibling 1 PubMed: Hjortshoj 2008 family 1, sibling 1 ? - Somalia - - - - - BBS - 1 1 LOVD
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