Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant by Emma C. Bedoukian, Stefan Rentas, Cara Skraban, Qing Shao, James Treat, Dale W. Laird, Kathleen E. Sullivan

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P386: Agenesis of olfactory apparatus due to intragenic deletion of SIN3A and MAN2C1 resulting in Witteveen-Kolk syndrome by Sarah Donoghue, Cara Skraban, Jake Squicciarini, Jing Wang, Alyssa Rippert, Donna McDonald-McGinn, Elaine Zackai

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P186: The earliest sign of hypogonadotropic hypogonadism: The importance of genetic screening and evaluation in individuals with microphallus by Jacqueline Leonard, Marissa Kilberg, Maria Vogiatzi, Chris Gibson, Jason Van Batavia, Leela Morrow, Vaneeta Bamba, Sara Pinney, Christopher Gray, Cara Skraban, Kosuke Izumi, Louise Pyle

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Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort by Alanna Strong, Meckenzie Behr, Carina Lott, Abigail J. Clark, Frank Mentch, Renata Pellegrino Da Silva, Danielle R. Rux, Robert Campbell, Cara Skraban, Xiang Wang, Jason B. Anari, Benjamin Sinder, Patrick J. Cahill, Patrick Sleiman, Hakon Hakonarson

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O07: Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects by Cherith Somerville, Ersa Erkut, Marci Schwartz, Xin Chen, Roozbeh Manshaei, Qiliang Ding, Karin Diderich, Lisa Herzig, Bri Dingmann, Chloe Quelin, Véronique Pingault, Christèle Dubourg, Joana Rosmaninho Salgado, Sérgio Sousa, Daniel Koboldt, Rachel Gosselin, Kim McBride, Maria Arvio, Irma Järvelä, Isabelle Schrauwen, Laura Conlin, Cara Skraban, Sara Reichert, Jacqueline Leonard, Emma Bedoukian, Raymond Kim, Ian Scott, Rebekah Jobling

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