All individuals with variants in gene ZIC3

43 entries on 1 page. Showing entries 1 - 43.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00029038 MC194 PubMed: El Malti 2016, Journal: El Malti 2016 - M no France European 00y00m - yes - CHD left superior vena cava draining to the coronary sinus common atrium complete atrioventricular septal defect pulmonic stenosis transposition of the great arteries with ventricular septal defect abdominal situs inversus right atrial isomerism pulmonary situs ambiguus with bilateral morphologic right lungs asplenia 1 1 Patrice Bouvagnet
00029039 MC069 PubMed: El Malti 2016, Journal: El Malti 2016 - M no France gypsy >14y - yes liver transplantation CHD interrupted vena cava with azygous continuation polysplenia abdominal situs inversus biliary atresia extrahepatic 1 1 Patrice Bouvagnet
00029040 MC177 PubMed: El Malti 2016, Journal: El Malti 2016 - M no Benin African 00y00m - yes - HTX1 heterotaxy with complex cardiac malformations 1 1 Patrice Bouvagnet
00059056 - - - M ? - - - - - - HTX1 Heterotaxy, gut malrotation, asplenia, ASD, CAVC, PA 1 1 Aimee Paulussen
00059057 - - - M - - - - - - - HTX1 ASD, VSD, DORV, PS, TGA, cholestatic liver disease, imperforate anus, bilat club feet, fused lumbar vertebrae. 1 1 Aimee Paulussen
00059058 - - - M ? - - - - - - HTX1 AVSD, DORV, PAPVR, malrotation, transverse liver, asplenia. 1 1 Aimee Paulussen
00059059 - - - M ? - - - - - - HTX1 d-TGA, PDA 1 1 Aimee Paulussen
00059060 - - - M ? - - - - - - HTX1 Heterotaxy, Midline liver, dextrocardia, CAVC, PA, DORV, TAPVR. 1 1 Aimee Paulussen
00059061 - - - M ? - - - - - - HTX1 Heterotaxy, dextrocardia, VSD, ventriculomegaly, no stomach. 1 1 Aimee Paulussen
00059062 - - - M no Sweden - - - - - HTX1 Two male fetuses with heterotaxy, one living male with heterotaxy and caudal regression syndrome 1 1 Aimee Paulussen
00059063 - - - M no Spain - - - - - HTX1 Three male fetuses with heterotaxy syndrome. 1 1 Aimee Paulussen
00059064 - - - M no Hungary - - - - - HTX1 Two male fetuses with heterotaxy syndrome. 1 1 Aimee Paulussen
00059065 - - - M no Netherlands white - - - - HTX1 Male fetus with complex CHD (DORV, TGA, AVSD) and isomerism. 1 1 Aimee Paulussen
00059066 - - - F no Finland - - - - - HTX1 Asymptomatic, familial history of male heterotaxy (2 brothers died of heterotaxy) 1 1 Aimee Paulussen
00059067 - - - M no Denmark - - - - - HTX1 Two male fetuses with heterotaxy syndrome. 1 1 Aimee Paulussen
00059071 - - - F - - - - - - - HTX1 Female with AVSD, pulmonary atresia and TAPVR, also abdominal malrotation. 1 1 Aimee Paulussen
00059072 - - - F - - - - - - - HTX1 Congenital heart disease. 1 1 Aimee Paulussen
00059073 - - - M - - - - - - - HTX1 TGA 1 1 Aimee Paulussen
00059074 - - - F - - - - - - - HTX1 PA, VSD, ASD. 1 1 Aimee Paulussen
00059075 - - - F - - - - - - - HTX1 Asymptomatic, familial history of male dextrocardia and heterotaxy. 1 1 Aimee Paulussen
00059076 - - - M - - - - - - - HTX1 Two male deaths with heterotaxy 1 1 Aimee Paulussen
00059077 - - - M - - - - - - - HTX1 Three males with situs ambiguous. 1 1 Aimee Paulussen
00059078 - - - F - - - - - - - HTX1 Heterotaxy, VSD, L hip dysplasia. 1 1 Aimee Paulussen
00059079 - - - M - - - - - - - HTX1 Two male brothers with situs ambiguous and anal malformations. 1 1 Aimee Paulussen
00059080 - - - M - - - - - - - HTX1 Abdominal situs inversus, asplenia, CAVC, PA, d-TGA. 1 1 Aimee Paulussen
00059081 - - - ? - - - - - - - HTX1 - 1 1 Aimee Paulussen
00059082 - - - M - - - - - - - HTX1 Situs ambiguous, sacral agenesis. 1 1 Aimee Paulussen
00059083 - - - M - - - - - - - HTX1 d-TGA, single ventricle, PA, polysplenia. 1 1 Aimee Paulussen
00059084 - - - M - - - - - - - HTX1 HLHS, right atrial isomerism, TGA, aplenia, malrotation webbed neck, abnormal liver lobation. 1 1 Aimee Paulussen
00059085 - - - F - - - - - - - HTX1 Asplenia, CAVC, PA. 1 1 Aimee Paulussen
00059086 - - - M - - - - - - - HTX1 Single ventricle, PS, DORV, asplenia, horseshoe kidney, low-set ears, abnormal situs. 1 1 Aimee Paulussen
00059087 - - - M - - - - - - - HTX1 Hypoplastic LV, d-TGA, DORV, VSD, ventricular inversion, heterotaxy, gut malrotation, polysplenia, midline liver. 1 1 Aimee Paulussen
00059088 - - - ? - - - - - - - HTX1 Isolated CHD, HLHS, PS, l-TGA, DILV, ASD, DORV, heterotaxy, dextrocardia, d-TGA, TA. 1 1 Aimee Paulussen
00059089 - - - M - - - - - - - HTX1 d-TGA 1 1 Aimee Paulussen
00059093 - - - F - - - - - - - HTX1 ASD type II, VSD, AVSD, situs inversus totalis, dextrocardia. 1 1 Aimee Paulussen
00059094 - - - - - - - - - - - HTX1 - 1 1 Aimee Paulussen
00059095 - - - M - - - - - - - HTX1 Dextroposition heart, bilat superior vena cava, oesophageal atresia, anal atresia, multicystic dysplasia. 1 1 Aimee Paulussen
00059096 - - - F - - - - - - - HTX1 Heterotaxy 1 1 Aimee Paulussen
00294944 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00300273 Pt6402 PubMed: Liu 2020, Journal: Liu 2020 - M no France - 00y - - - CHD, HTX Left Superior Vena Cava, total anomalous pulmonary vein return, complete AtrioVventriculo canal, hypoplastic left ventricle, double outlet right ventricle, L-Transposition of the Great Arteries, right aortic arch, Right pulmonary isomerism, asplenia, intestinal malrotation, horseshoe kidney, partial agenesis of rectum and anus, Right pulmonary isomerism, asplenia, intestinal malrotation, horseshoe kidney, partial agenesis of rectum and anus, Left Superior Vena Cava, total anomalous pulmonary vein return, complete AtrioVentricular canal, hypoplastic left ventricle, double outlet right ventricle, L-Transposition of the Great Arteries, right aortic arch 1 2 Patrice Bouvagnet
00300274 Pt7146 PubMed: Liu 2020, Journal: Liu 2020 - F no France - 00y - - - CHD Muscular Ventricular Septal Defect, Hypoplastic Left Ventricle, Pulmonary Atresia, L-Transposition of the Great Arteries 1 1 Patrice Bouvagnet
00300275 Pt7129 PubMed: Liu 2020, Journal: Liu 2020 - M no France - 00y - - - CHD, HTX Complete AtrioVentricular canal, double outlet right ventricle, pulmonary trunk hypoplasia, Dextrocardia; stomach on the right; gall bladder of the left, Dextrocardia; stomach on the right; gall bladder of the left; Complete AtrioVentriculo canal, double outlet right ventricle, pulmonary trunk hypoplasia 1 2 Patrice Bouvagnet
00300276 Pt7883 PubMed: Liu 2020, Journal: Liu 2020 - M no France - 00y01m? - - - CHD, HTX - 1 1 Patrice Bouvagnet
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.