All individuals with variants in gene GNAI3

13 entries on 1 page. Showing entries 1 - 13.
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AscendingIndividual ID     
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VIP     
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Variants     
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Owner     
00016105 - PubMed: Erlich 2000, PubMed: Rieder 2012 2-generation family, daugther (affected mother S012-P) F no - - - - - - ARCND1 severe mandibular abnormalities, congenital mandibular ankylosis with lateral fusion mandible to temporozygomatic suture, medial fusion to skull base (medial and lateral pterygoid plates), resulting in airway obstruction requiring tracheostomy; severe microglossia, elongated soft-tissue masses attached at posterior floor mouth, excessive soft tissue protruding from medial alveolus lower jaw 1 2 Johan den Dunnen
00016106 - PubMed: Rieder 2012 2-generation family, affected mother of S011 F no - - - - - - ARCND1 - 1 1 Johan den Dunnen
00016107 - PubMed: Rieder 2012 2-generation family, affected daugther F no - - - - - - ARCND1 - 1 2 Johan den Dunnen
00016108 - PubMed: Rieder 2012 2-generation family, unaffected carrier father S008 M no - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00016123 - PubMed: Guion-Almeida 2002; PubMed: Masotti 2008 familial case; except for one non-penetrant individual the variant segregates with the ARCND1 phenotype - no Brazil - - - - - ARCND1 - 1 3 Maria Rita Passos-Bueno
00016124 - PubMed: Propst 2013 - M no - - - - - - ARCND1 - 1 1 Maria Rita Passos-Bueno
00016125 - - - M no - - - - - - ARCND1 - 1 1 Maria Rita Passos-Bueno
00016207 - PubMed: Gordon 2013 2-generation family, daugther and father (23315542-Pat7f) F no - - - - - - ARCND1 question mark ears, micro- and/or retrognathia, facial asymmetry; presented with asymmetric micrognathia, malocclusion, microstomia, notch between lobe and helix right ear; X-ray mildly hypoplastic first ribs 1 2 Johan den Dunnen
00016209 - PubMed: Gordon 2013 2-generation family, father and daugther (23315542-Pat7) M no - - - - - - ? normal ears, large cheeks, possible hypoplasia angle mandible 1 1 Johan den Dunnen
00402589 - - - - - - - - - - - ARCND - 1 1 Nancy Vegas
00402590 - - - - - - - - - - - ARCND - 1 1 Nancy Vegas
00448207 Pat82 PubMed: Poli 2024 - F - Chile - - - - - ? clinodactyly; ventricular septal defect; abnormality of the anus; premature birth; dysmorphic facial features 1 1 Johan den Dunnen
00468948 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
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