All individuals with variants in gene C14orf101

5 entries on 1 page. Showing entries 1 - 5.
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AscendingIndividual ID     
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Owner     
00228275 - - - ? - - - - - - - ? HP:0001660 (Truncus arteriosus) 1 1 IMGAG
00358822 Fam1PatII1 PubMed: Ta-Sham 2017 2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives M yes Israel Jewish-Ashkenazi 2m - - - ? 2m-deceased; ventricular septal defect; systolic murmur; truncus arteriosus; no tetralogy of Fallot; interrupted aortic arch; no right aortic arch; no tricuspid valve atresia; no persistent left superior vena cava; partial anomalous pulmonary venous return; agenesis of corpus callosum; no microcephaly; elevated creatinine levels (1.3 mg/dL); oliguria; no renal cysts; no polydactyly; no overriding toes; generalized edema 1 3 Johan den Dunnen
00358823 Fam1PatII2 PubMed: Ta-Sham 2017 - F yes Israel Jewish-Ashkenazi 1m15d - - - ? 1.5m-deceased; ventricular septal defect; systolic murmur; truncus arteriosus; no tetralogy of Fallot; no interrupted aortic arch; right aortic arch; tricuspid valve atresia; persistent left superior vena cava; no partial anomalous pulmonary venous return; agenesis of corpus callosum; no microcephaly; elevated (1.3 mg/dL); anuria; no renal cysts; polydactyly; no overriding toes; edema, cyanosis, low-set ears, bilateral preauricular skin tags, webbed neck 1 1 Johan den Dunnen
00358824 Fam1PatII3 PubMed: Ta-Sham 2017 - M yes Israel Jewish-Ashkenazi >2y - - - ? ventricular septal defect, atrial septal defect; systolic murmur; no truncus arteriosus; no tetralogy of Fallot; no interrupted aortic arch; no right aortic arch; no tricuspid valve atresia; no persistent left superior vena cava; no partial anomalous pulmonary venous return; no agenesis of corpus callosum; no microcephaly; renal cysts; no polydactyly; overriding toes; facial port wine nevus, undescended right testis 1 1 Johan den Dunnen
00358825 Fam2PatII4 PubMed: Ta-Sham 2017 2-generation family, affected sisters, unaffected heterozygous carrier parents/relatives F yes Israel Jewish-Ashkenazi 01y - - - ? 1y-deceased; ventricular septal defect; systolic murmur; no truncus arteriosus; tetralogy of Fallot, pulmonic atresia, major aortopulmonary collateral arteries; no interrupted aortic arch; no right aortic arch; no tricuspid valve atresia; no persistent left superior vena cava; no partial anomalous pulmonary venous return; microcephaly; elevated creatinine levels (1.93 mg/dL); no renal cysts; no polydactyly; no overriding toes; generalized edema, cyanosis, facial dysmorphism, hypotonia 1 2 Johan den Dunnen
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