All individuals with variants in gene MMP21

12 entries on 1 page. Showing entries 1 - 12.
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00034442 - - registry CARREG at Necker Hospital, Paris, France, patient RECH003865 M yes - - >05y - yes - CHD - 1 1 Patrice Bouvagnet
00034498 - - This patient has heterotaxy different from the ones in the diseases lists (another locus) The neonate died at 1 day of life F no France European 00y00m01d - y - CHD Interrupted inferior vena cava with azygous continuation, Partial anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Partial atrioventricular canal defect, Hypoplastic left heart, dextrocardia 2 1 Patrice Bouvagnet
00034499 - - Heterotaxy not linked to any known gene yet M yes (France) North Africa >05y - yes - CHD interrupted inferior vena cava with azygous continuation, common atrium, common atrium, complete atrioventricular septal defect, transposition of the great arteries, pulmonary stenosis, peripheral pulmonary stenosis, intestinal malrotation, polysplenia 1 1 Patrice Bouvagnet
00034500 - - - M no France carribean island 13y - yes - CHD Bilateral superior vena with bridging vein, interrupted inferior vena cava with azygos continuation, hepatic veins to bilateral atriums, mitral atresia, single ventricle Left pulmonary isomerism, left sided liver, right-sided stomach, polysplenia. 2 1 Patrice Bouvagnet
00034501 - - Heterotaxy not linked to any known heterotaxy locus yet M yes Turkey Turkish ? - yes - CHD Commun atrium, complete atrioventricular canal defect, dextrocardia Abnormality of abdominal situs 1 1 Patrice Bouvagnet
00034502 - - - M yes Turkey Turkish ? - yes - CHD Common atrium, complete atrioventricular canal defect, transposition of the great arteries with ventricular septal defect intestinal malrotation, midline liver 1 1 Patrice Bouvagnet
00034503 - - heterotaxy not linked to any known heterotaxy locus yet F yes Turkey Turkish ? - - - CHD Congenitally corrected transposition of the great arteries with ventricular septal defect, pulmonic stenosis Abnormal abdominal situs 1 1 Patrice Bouvagnet
00034504 - - - M yes Algeria North Africa >15y - yes - CHD Interrupted inferior vena cava with azygous continuation, partial anomalous pulmonary venous return, patent foramen ovale, inlet ventricular septal defect, perimembranous ventricular septal defect Abnormality of abdominal situs 1 1 Patrice Bouvagnet
00043813 - - - F no Germany European >33y - - - CHD common atrium, dextrocardia 2 264 Patrice Bouvagnet
00043822 - - - M no (United States) Hispanic ? - - - CHD interrupted vena cava with azygous continuation, transposition of the great arteries, double outlet right ventricle, valvar pulmonary stenosis, dextrocardia 2 1 Patrice Bouvagnet
00050476 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - - Decipher - ? clinodactyly of the 5th finger, specific learning disability, joint hypermobility, lumbar hyperlordosis, gingival overgrowth 1 2 Johan den Dunnen
00300280 Pt7435 PubMed: Liu 2020, Journal: Liu 2020 - F no France - 00y - - - CHD, HTX Common atrium, mitral atresia, hypoplastic left ventricle, Ventricular Septal Defect, right pulmonary isomerism, intestinal malrotation 2 1 Patrice Bouvagnet
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