All individuals with variants in gene FBLN5

30 entries on 1 page. Showing entries 1 - 30.
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AscendingIndividual ID     

ID_report     

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Remarks     

Gender     

Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00081474 - PubMed: Callewaert 2013, Journal: Callewaert 2013 - F yes Lebanon - - 0 - - ARCL1A generalized congenital cutis laxa with facial involvement, severe emphysema, inguinal hernias, peripheral pulmonary artery stenosis, pyloric stenosis, mild aortic and tricuspid valve regurgitation 1 1 Bert Callewaert
00081475 - PubMed: Callewaert 2013, Journal: Callewaert 2013 - F yes Algeria - - 0 - - ARCL1A congenital cutis laxa (with facial involvement), severe emphysema, normal cardiac status on echocardiography, high broad forehead, low broad nasal bridge, beaked nose, larage dysplastic ears, sagging cheeks, everted lower lip, photophobia, normal mental status, hypotonia 1 1 Bert Callewaert
00226181 controls submitted analysis 302 control individuals - - India - - 0 - - Healthy/Control - 1 135 Debasmita P Alone
00226182 controls submitted analysis 302 control individuals - - India - - 0 - - Healthy/Control - 1 50 Debasmita P Alone
00228154 cases submitted analysis 347 cases - - India - - 0 - - ? pseudoexfoliation (HP:0012627) 1 131 Debasmita P Alone
00235387 cases submitted analysis 347 cases - - India - - 0 - - ? pseudoexfoliation (HP:0012627) 1 44 Debasmita P Alone
00235389 controls submitted analysis 302 control individuals - - India - - 0 - - Healthy/Control - 1 104 Debasmita P Alone
00235390 controls submitted analysis 302 control individuals - - India - - 0 - - Healthy/Control - 1 180 Debasmita P Alone
00235393 cases submitted analysis 346 cases - - India - - 0 - - ? pseudoexfoliation (HP:0012627) 1 139 Debasmita P Alone
00235394 cases submitted analysis 346 cases - - India - - 0 - - ? pseudoexfoliation (HP:0012627) 1 194 Debasmita P Alone
00235395 cases submitted analysis 354 cases - - India - - 0 - - ? pseudoexfoliation (HP:0012627) 1 176 Debasmita P Alone
00235396 cases submitted analysis 354 cases - - India - - 0 - - ? pseudoexfoliation (HP:0012627) 1 106 Debasmita P Alone
00235397 controls submitted analysis 302 control individuals - - India - - 0 - - Healthy/Control - 1 147 Debasmita P Alone
00235398 controls submitted analysis 302 control individuals - - India - - 0 - - Healthy/Control - 1 86 Debasmita P Alone
00332049 Pat187 PubMed: Birtel 2018 patient F - Germany - - 0 - - retinal disease reduced visual acuity; EOG normal 1 1 LOVD
00362007 Pat10AB PubMed: Duvvari 2016 patient - - Netherlands white - 0 - - retinal disease - 1 1 LOVD
00376213 - PubMed: Barbazetto 2007 - - - - - - 0 - - retinal disease - 1 6 LOVD
00376214 - PubMed: Barbazetto 2007 - - - - - - 0 - - retinal disease - 1 1 LOVD
00376215 - PubMed: Barbazetto 2007 - - - - - - 0 - - retinal disease - 1 2 LOVD
00376216 - PubMed: Barbazetto 2007 - - - - - - 0 - - retinal disease - 1 2 LOVD
00376217 - PubMed: Barbazetto 2007 - - - - - - 0 - - retinal disease - 1 1 LOVD
00376218 - PubMed: Barbazetto 2007 - - - - - - 0 - - retinal disease - 1 1 LOVD
00376219 - PubMed: Barbazetto 2007 - - - - - - 0 - - retinal disease - 1 2 LOVD
00376220 - PubMed: Barbazetto 2007 - - - - - - 0 - - retinal disease - 1 1 LOVD
00376221 - PubMed: Barbazetto 2007 - - - - - - 0 - - retinal disease - 1 1 LOVD
00376222 - PubMed: Barbazetto 2007 - - - - - - 0 - - retinal disease - 1 4 LOVD
00376223 - PubMed: Barbazetto 2007 - - - - - - 0 - - retinal disease - 1 9 LOVD
00376224 - PubMed: Barbazetto 2007 - - - - - - 0 - - retinal disease - 1 1 LOVD
00376225 - PubMed: Barbazetto 2007 - - - - - - 0 - - retinal disease - 1 8 LOVD
00376226 - PubMed: Jacobson 2008 - M - - - - 0 - - retinal disease - 1 1 LOVD
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