eP262: De novo heterozygous variant in the RAB11B gene presenting with combined cardiac defect and neurodevelopmental disorder: A case report von Tung, Moon Ley, Romoser, Shelby, Kotlarek, Jaclyn, Warner, Taylor, Calhoun, Amy, Safina, Nicole

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eP095: A family-based study of hereditary spastic paraplegia type 46 in two siblings due to a novel GBA2 variant von Chandra, Bharatendu, Romoser, Shelby, Kotlarek, Jaclyn, Warner, Taylor, El-Shanti, Hatem

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Genotype-phenotype correlation at codon 1740 ofSETD2 von Rabin, Rachel, Radmanesh, Alireza, Glass, Ian A., Dobyns, William B., Aldinger, Kimberly A., Shieh, Joseph T., Romoser, Shelby, Bombei, Hannah, Dowsett, Leah, Trapane, Pamela, Bernat, John A., Baker, Janice, Mendelsohn, Nancy J., Popp, Bernt, Siekmeyer, Manuela, Sorge, Ina, Sansbury, Francis Hugh, Watts, Patrick, Foulds, Nicola C., Burton, Jennifer, Hoganson, George, Hurst, Jane A., Menzies, Lara, Osio, Deborah, Kerecuk, Larissa, Cobben, Jan M., Jizi, Khadije, Jacquemont, Sebastien, Belanger, Stacey A., Lohner, Katharina, Veenstra-Knol, Hermine E., Lemmink, Henny H., Keller-Ramey, Jennifer, Wentzensen, Ingrid M., Punj, Sumit, McWalter, Kirsty, Lenberg, Jerica, Ellsworth, Katarzyna A., Radtke, Kelly, Akbarian, Schahram, Pappas, John

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Genotype–phenotype correlation at codon 1740 of SETD2 von Rabin, Rachel, Radmanesh, Alireza, Glass, Ian A., Dobyns, William B., Aldinger, Kimberly A., Shieh, Joseph T., Romoser, Shelby, Bombei, Hannah, Dowsett, Leah, Trapane, Pamela, Bernat, John A., Baker, Janice, Mendelsohn, Nancy J., Popp, Bernt, Siekmeyer, Manuela, Sorge, Ina, Sansbury, Francis Hugh, Watts, Patrick, Foulds, Nicola C., Burton, Jennifer, Hoganson, George, Hurst, Jane A., Menzies, Lara, Osio, Deborah, Kerecuk, Larissa, Cobben, Jan M., Jizi, Khadijé, Jacquemont, Sebastien, Bélanger, Stacey A., Löhner, Katharina, Veenstra‐Knol, Hermine E., Lemmink, Henny H., Keller‐Ramey, Jennifer, Wentzensen, Ingrid M., Punj, Sumit, McWalter, Kirsty, Lenberg, Jerica, Ellsworth, Katarzyna A., Radtke, Kelly, Akbarian, Schahram, Pappas, John

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