All individuals with variants in gene EVC

95 entries on 1 page. Showing entries 1 - 95.
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00058525 - - - ? ? Brazil - - - - - EVC - 1 1 Karina Silveira
00293637 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 126 Mohammed Faruq
00299448 Fam1 PubMed: Ayhan 2014 4-generation family, 3 affected brothers M yes Turkey - - - - - INFM see paper; ..., azoospermia (3/4), oligozoospermia (1/4) 1 3 Johan den Dunnen
00304999 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00307008 - - - M no Italy - - - - - EVC Partial AVCD with common atrium, postaxial polydactyly of the left hand and both feet, and agenesis of the upper lateral incisors bilaterally 4 1 Francesca Piceci Sparascio
00307010 - - - F no Italy - - - - - EVC Single atrium with partial AVCD, and persistent left superior vena cava draining into the left atrium. Bilateral postaxial polydactyly of hands (operated at 4 years) and feet. X-ray showed clinodactyly of the 5th finger, postaxial polydactyly of toes, proximal fusion between 3rd and 4th, and 5th and 6th toes and metatarsal bones at left. Nails showed no abnormalities. Oral anomalies included agenesis of both upper lateral incisors and lower central incisor bilaterally, and multiple frenula between the upper lip and gingiva. 4 1 Francesca Piceci Sparascio
00307090 Pat16086 PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 parents not available - - - - - - - - EVC - 2 1 Johan den Dunnen
00307091 Pat15219 PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 2-generation family, 1 affected, unaffected heterozygous parents (father Weyers acrodental dysostosis) - - - - - - - - EVC - 2 1 Johan den Dunnen
00307092 FamAmish PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 large multigeneration family F;M - United States Amish - - - - EVC - 2 1 Johan den Dunnen
00307093 PatNCL16 PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 - - - - - - - - - EVC - 1 1 Johan den Dunnen
00307094 PatNCL14 PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 - - - - - - - - - EVC - 1 1 Johan den Dunnen
00307095 PatNCL12 PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 - - - - - - - - - EVC - 1 1 Johan den Dunnen
00307096 FanEVC015Pat16218 PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 2-generation family, 1 affected, unaffected heterozygous parents/sister F - - - - - - - EVC - 1 1 Johan den Dunnen
00307097 PatI1 affected father and daughter - F;M - - - - - - - EVC father/daughter postaxial polydactyly hands and feet, partial atrioventricular canal with common atrium and agenesis upper lateral incisors bilaterally with enamel abnormalities 1 2 Johan den Dunnen
00307098 - PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 - - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00307099 - PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 - - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00307100 - PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 - - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00307101 - PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 - - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00307102 - PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 - - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00307103 - PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 - - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00307104 - PubMed: Ruiz-Perez 2000, Journal: Ruiz-Perez 2000 - - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00307127 Pat2 PubMed: Rudnik-Schöneborn 2011, Journal: Rudnik-Schöneborn 2011 2-generation family, 1 affected, unaffacted parents M - Sri Lanka - - - - - EVC see paper; ..., height 151 cm; short limbs, polydactyly hands/right foot, no syndactyly, brachydactyly; nail dysplasia; genu valgum; atrial septal defect; hypodontia/dysplastic teeth 2 1 Johan den Dunnen
00325881 Pat10-3 PubMed: Sund 2009 - M - United States white, Hispanic - - - - EVC common atrium/partial AV canal, short stature, polydactyly 1 1 Johan den Dunnen
00325882 Pat4-12 PubMed: Sund 2009 - F - United States African American - - - - EVC ccommon atrium/partial AV canal, short stature, polydactyly 1 1 Johan den Dunnen
00325886 Fam1 PubMed: Temtamy 2008 4-generation family, 3 affected sibs (F, 2M) F;M yes Egypt - - - - - EVC see paper; ... 1 3 Johan den Dunnen
00325887 - PubMed: Temtamy 2008 - - no Italy - - - - - EVC see paper; ... 2 1 Johan den Dunnen
00325888 52453 PubMed: Tompson 2007 - - - - - - - - - EVC - 1 1 Johan den Dunnen
00325889 44736 PubMed: Tompson 2007 - - - - - - - - - EVC - 1 1 Johan den Dunnen
00325890 39596 PubMed: Tompson 2007 - - - - - - - - - EVC - 1 1 Johan den Dunnen
00325891 33411 PubMed: Tompson 2007 - - - - - - - - - EVC - 1 1 Johan den Dunnen
00325892 31682 PubMed: Tompson 2007 - - - - - - - - - EVC - 1 1 Johan den Dunnen
00325893 GC24941 PubMed: Tompson 2007 - - - - - - - - - EVC - 2 1 Johan den Dunnen
00325894 19242 PubMed: Tompson 2007 - - - - - - - - - EVC - 1 1 Johan den Dunnen
00325895 51185 PubMed: Tompson 2007 - - - - - - - - - EVC - 1 1 Johan den Dunnen
00325896 GC30714 PubMed: Tompson 2007 - - - - - - - - - EVC - 1 1 Johan den Dunnen
00325897 36148 PubMed: Tompson 2007 - - - - - - - - - EVC - 1 1 Johan den Dunnen
00325898 34829 PubMed: Tompson 2007 - - - - - - - - - EVC - 1 1 Johan den Dunnen
00325899 42597 PubMed: Tompson 2007 - - - - - - - - - EVC - 1 1 Johan den Dunnen
00325900 31765 PubMed: Tompson 2007 - - - Portugal - - - - - EVC - 1 1 Johan den Dunnen
00325901 31773 PubMed: Tompson 2007 - - - Portugal - - - - - EVC - 1 1 Johan den Dunnen
00325902 13524 PubMed: Tompson 2007 - - - - - - - - - EVC - 1 1 Johan den Dunnen
00325903 33566 PubMed: Tompson 2007 - - - - - - - - - EVC - 2 1 Johan den Dunnen
00325904 29726 PubMed: Tompson 2007 - - - - - - - - - EVC - 1 1 Johan den Dunnen
00325905 12705 PubMed: Tompson 2007 - - - - - - - - - EVC - 2 1 Johan den Dunnen
00325906 11089 PubMed: Tompson 2007 - - - - - - - - - EVC - 1 1 Johan den Dunnen
00325907 12539 PubMed: Tompson 2007 - - - - - - - - - EVC - 1 1 Johan den Dunnen
00325908 GM13310 PubMed: Tompson 2007 - - - United States Amish - - - - EVC - 1 1 Johan den Dunnen
00325909 family PubMed: Ulucan 2008 5-generation family, 13 affected (3F, 11M) F;M yes Turkey - - - - - EVC - 1 13 Johan den Dunnen
00326006 Pat1 PubMed: D'Asdia 2013 fetus - no Italy - - - - - EVC short stature, postaxial polydactyly, short ribs, common atrium, tricuspid valve anomaly 1 1 Johan den Dunnen
00326007 Pat2 PubMed: D'Asdia 2013 - M yes Portugal - - - - - EVC short stature, postaxial polydactyly, hypoplasia of the third phalanges in hands and feet, nail hypoplasia, hypodontia, ichthyosis 1 1 Johan den Dunnen
00326008 Pat3 PubMed: D'Asdia 2013 - M no Italy - - - - - EVC short stature, postaxial polydactyly, short limbs, short ribs, hypoplastic nails, multiple oral frenula 2 1 Johan den Dunnen
00326009 Pat4 PubMed: D'Asdia 2013 fetus M yes Pakistan - - - - - EVC postaxial polydactyly, short limbs, short ribs, pulmonary hypoplasia, atrial septal defect 1 1 Johan den Dunnen
00326010 Pat5 PubMed: D'Asdia 2013 - F yes Iraq - - - - - EVC short stature, postaxial polydactyly, neonatal teeth 1 1 Johan den Dunnen
00326011 Pat6 PubMed: D'Asdia 2013 - M no Romania - - - - - EVC short stature, postaxial polydactyly, short ribs, hypodontia, abnormally shaped teeth, multiple oral frenula, narrow palate, atrial septal defect, club foot, frequent respiratory infections, facial anomalies 2 1 Johan den Dunnen
00326012 Pat7 PubMed: D'Asdia 2013 fetus - no Australia - - - - - EVC postaxial polydactyly, short limbs, short ribs, no oral frenulae, hypoplastic left ventricle, left ventricle outflow tract obstruction, ventricular septal defect, postaxial polydactyly, anteriorly placed anus, club feet, facial anomalies, syndactyly, coronal cleft in lumbar vertebrae, gallbladder hypoplasia, pyelectasia 2 1 Johan den Dunnen
00326013 Pat8 PubMed: D'Asdia 2013 fetus M no Australia - - - - - EVC postaxial polydactyly, short limbs, hypoplastic left heart with mitral stenosis, aortic valve atresia, left ventricular and aortic hypoplasia, micrognathia, facial anomalies, syndactyly 2 1 Johan den Dunnen
00326014 Pat9 PubMed: D'Asdia 2013 - F no Italy - - - - - EVC short stature, postaxial polydactyly, short ribs, atrial septal defect, hypodontia, carpal bone fusion, bowed humeri, onychodystrophy, brachydactyly 2 1 Johan den Dunnen
00326015 Pat10 PubMed: D'Asdia 2013 fetus F yes Italy - - - - - EVC short stature, postaxial polydactyly, short limbs, short ribs 1 1 Johan den Dunnen
00326016 Pat11 PubMed: D'Asdia 2013 - M no Italy - - - - - EVC postaxial polydactyly, hypoplastic nails, multiple oral frenula, teeth anomalies, atrioventricular block 2 1 Johan den Dunnen
00326017 Pat12 PubMed: D'Asdia 2013 fetus - yes Italy - - - - - EVC short stature, postaxial polydactyly, short ribs, partial atrioventricular canal 1 1 Johan den Dunnen
00326018 Pat13 PubMed: D'Asdia 2013 - M no Italy - - - - - EVC short stature, postaxial polydactyly, hypoplastic nails, multiple oral frenula, hypodontia and enamel hypoplasia, patent foramen ovale, hypospadias 2 1 Johan den Dunnen
00326019 Pat14 PubMed: D'Asdia 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Slovakia (Slovak Republic) - - - - - EVC postaxial polydactyly, short limbs, dysplastic nails, gingival anomalies, complete atrioventricular canal 1 1 Johan den Dunnen
00326020 Pat15 PubMed: D'Asdia 2013 - M yes Turkey - - - - - EVC postaxial polydactyly, uncle with polydactyly hypoplastic nails, multiple oral frenula, neonatal teeth, hypoplastic left heart syndrome, aortic coarctation 1 1 Johan den Dunnen
00326021 Pat16 PubMed: D'Asdia 2013 - F no Yugoslavia - - - - - EVC short stature, postaxial polydactyly, short ribs, hypoplastic nails, multiple oral frenula, irregular alveolar ridge, premature eruption of teeth, partial atrioventicular canal, aortic coarctation, 2 1 Johan den Dunnen
00326022 Pat17 PubMed: D'Asdia 2013 - F no Italy - - - - - EVC short stature, postaxial polydactyly, hypoplastic nails, enamel hypoplasia, hypodontia, abnormally shaped teeth, delayed eruption of teeth, common atrium, tricuspid and mitral valve anomalies, patent ductus arteriosus, genu valgum 2 1 Johan den Dunnen
00326023 Pat18 PubMed: D'Asdia 2013 fetus M no United Kingdom (Great Britain) - - - - - EVC short stature, postaxial polydactyly, short limbs, hypoplastic nails, partial atrioventricular canal 2 1 Johan den Dunnen
00326024 Pat19 PubMed: D'Asdia 2013 - M yes Algeria - - - - - EVC short stature, postaxial polydactyly, short ribs, nail hypoplasia, complete atrioventricular canal, small ventricular septal defect component left superior vena cava drains into left atrium by unroofed coronary sinus, Dandy-Walker malformation, epispadias, hypotonia 1 1 Johan den Dunnen
00326025 Pat20 PubMed: D'Asdia 2013 - - no Ireland - - - - - EVC - 2 1 Johan den Dunnen
00326041 family PubMed: Umm-e-Kalsoom 2009 4-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents F;M yes Pakistan - - - - - EVC see paper; ... 1 1 Johan den Dunnen
00326043 Fam2PatV1 PubMed: Ali 2010 4-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Sudan - - - - - EVC common atrium with dilated coronary sinus; short/thin upper lip, short/multiple frenula, irregular alveolar ridge, natal teeth, short broad nose, long philtrum; postaxial polydactyly hands, limb shortening mesomelic, narrow chest, nail hypoplasia; short long bones, short ribs with narrow chest, small iliac bones with downward spike 1 2 Johan den Dunnen
00326047 Pat29 PubMed: Valencia 2009 - - yes Turkey - - - - - EVC - 1 1 Johan den Dunnen
00326048 Pat30 PubMed: Valencia 2009 - - yes Turkey - - - - - EVC - 1 1 Johan den Dunnen
00326049 Pat8 PubMed: Valencia 2009 - - no Spain - - - - - EVC - 2 1 Johan den Dunnen
00326050 Pat21 PubMed: Valencia 2009 - - no Mexico - - - - - EVC - 2 1 Johan den Dunnen
00326051 Pat12 PubMed: Valencia 2009 - - yes Egypt - - - - - EVC - 1 1 Johan den Dunnen
00326052 Pat18 PubMed: Valencia 2009 - - no Spain - - - - - EVC - 2 1 Johan den Dunnen
00326053 Pat5 PubMed: Valencia 2009 - - yes Spain - - - - - EVC - 1 1 Johan den Dunnen
00326054 Pat7 PubMed: Valencia 2009 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Spain - - - - - EVC - 3 1 Johan den Dunnen
00326055 Pat38 PubMed: Valencia 2009 - - yes Jordan - - - - - EVC - 1 1 Johan den Dunnen
00326056 Pat39 PubMed: Valencia 2009 - - yes Jordan - - - - - EVC - 1 1 Johan den Dunnen
00326057 Pat3 PubMed: Valencia 2009 - - no Spain - - - - - EVC - 1 1 Johan den Dunnen
00326058 Pat22 PubMed: Valencia 2009 - - yes Qatar - - - - - EVC - 1 1 Johan den Dunnen
00326059 Pat13 PubMed: Valencia 2009 - - yes Egypt - - - - - EVC - 1 1 Johan den Dunnen
00326060 Pat37 PubMed: Valencia 2009 - - yes Jordan - - - - - EVC - 1 1 Johan den Dunnen
00326061 Pat31 PubMed: Valencia 2009 - - yes Israel - - - - - EVC - 1 1 Johan den Dunnen
00326062 Pat36 PubMed: Valencia 2009 - - no Netherlands - - - - - EVC - 1 1 Johan den Dunnen
00326063 Pat34 PubMed: Valencia 2009 - - yes Turkey - - - - - EVC - 1 1 Johan den Dunnen
00326064 Pat20 PubMed: Valencia 2009 - - yes Egypt - - - - - EVC - 2 1 Johan den Dunnen
00331428 16DG0331 PubMed: Maddirevula 2018 family M yes - Arab - - - - skeletal dysplasia Micromelia, Narrow chest 1 1 LOVD
00388421 R04-476A PubMed: Zhang-2019 - - - - white - - - - ? polydactyly 2 1 LOVD
00388422 R06-546 PubMed: Zhang-2019 - - - - white - - - - ? polydactyly 2 1 LOVD
00388423 R95-337 PubMed: Zhang-2019 - - - - white - - - - ? - 2 1 LOVD
00388424 R11-131A PubMed: Zhang-2019 - - - - white - - - - ? - 1 1 LOVD
00414339 WHP6 PubMed: Sun 2018 - F - China - - - - - ? - 1 1 LOVD
00416254 Pat12 PubMed: Monroe 2016 - M - Netherlands - - - - - ? diminished length growth (−5.5 SD) from birth, stationary stiff joints; general severe delayed development; facial dysmorphic features, blepharophimosis, small mouth, poor mimicry; brachydactyly, generalized stiffness, contractures 1 1 Johan den Dunnen
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