Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities von Snijders Blok, Lot, Vino, Arianna, den Hoed, Joery, Underhill, Hunter R., Monteil, Danielle, Li, Hong, Reynoso Santos, Francis Jeshira, Chung, Wendy K., Amaral, Michelle D., Schnur, Rhonda E., Santiago-Sim, Teresa, Si, Yue, Brunner, Han G., Kleefstra, Tjitske, Fisher, Simon E.

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Revaluation of the treatment of head and neck cancer in Brazil during the COVID-19 pandemic - phase 2 von José Martelli, Alison, Assis Machado, Renato, Medeiros Pereira, Wilson, Balduino Guimarães Santos, Francis, Pereira Marques, Nelson, Martelli Júnior, Hercílio

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Analysis of ECOG performance status in head and neck squamous cell carcinoma patients: association with sociodemographical and clinical factors, and overall survival von Corrêa, Gefter Thiago Batista, Bandeira, Gabriela Alencar, Cavalcanti, Bruna Gonçalves, Santos, Francis Balduíno Guimarães, Neto, João Felício Rodrigues, Guimarães, André Luiz Sena, Haikal, Desirée Sant’Ana, De Paula, Alfredo Maurício Batista

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Prevention of upper aerodigestive tract cancer through active search strategies and use of equipped propaedeutics von Santos, Francis Balduino Guimarães, Leonhardt, Fernando Danelon, Abrahão, Márcio

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Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania von Priestley, Jessica R C, Adang, Laura A, Drewes Williams, Sarah, Lichter-Konecki, Uta, Menello, Caitlin, Engelhardt, Nicole M, DiPerna, James C, DiBoscio, Brenda, Ahrens-Nicklas, Rebecca C, Edmondson, Andrew C, Reynoso Santos, Francis Jeshira, Ficicioglu, Can

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Low Arginine Suggesting the Diagnosis of Mitochondrial Cardiomyopathy von Wongkittichote, Parith, Cook, Edward B, Reynoso Santos, Francis Jeshira, Ahrens-Nicklas, Rebecca C, Hong, Xinying, Ganetzky, Rebecca D

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Quality of life of patients with head and neck cancer von Filho, Mário Rodrigues de Melo, Rocha, Breno Amaral, Pires, Maria Betânia de Oliveira, Fonseca, Emerson Santos, Freitas, Edimilson Martins de, Junior, Hercílio Martelli, Santos, Francis Balduíno Guimarães

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Retrospective identification of patients with SRRM2‐related neurodevelopmental disorder in a single tertiary children's hospital von Regan‐Fendt, Kelly E., Rippert, Alyssa L., Medne, Livija, Skraban, Cara M., DeJesse, Jeshua, Gray, Christopher, Reichert, Sara L., Staropoli, Nicholas P., Santos, Francis Jeshira Reynoso, Krantz, Ian D., Murrell, Jill R., Izumi, Kosuke

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A high HIF-1α expression genotype is associated with poor prognosis of upper aerodigestive tract carcinoma patients von Fraga, Carlos Alberto de Carvalho, de Oliveira, Marcos Vinícius Macedo, de Oliveira, Érica Silva, Barros, Lucas Oliveira, Santos, Francis Balduino Guimarães, Gomez, Ricardo Santiago, De-Paula, Alfredo Maurício Batista, Guimarães, André Luiz Sena

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The prevalence and phenotypic range associated with biallelic PKDCC variants von Pagnamenta, Alistair T., Belles, Rebecca S., Salbert, Bonnie Anne, Wentzensen, Ingrid M., Guillen Sacoto, Maria J., Santos, Francis Jeshira Reynoso, Caffo, Alesky, Ferla, Matteo, Banos‐Pinero, Benito, Pawliczak, Karolina, Makvand, Mina, Najmabadi, Hossein, Maroofian, Reza, Lester, Tracy, Yanez‐Felix, Ana Lucia, Villarroel‐Cortes, Camilo E., Xia, Fan, Al Fayez, Khowla, Al Hashem, Amal, Shears, Deborah, Irving, Melita, Offiah, Amaka C., Kariminejad, Ariana, Taylor, Jenny C.

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Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review von Thomas‐Wilson, Amanda, Schacht, John P., Chitayat, David, Blaser, Susan, Santos, Francis Jeshira Reynoso, Glaser, Kimberly, Caffo, Alesky, Wentzensen, Ingrid M., Henderson, Lindsay B., Zhang, Futao, Zhu, Ying, Di Corleto, Ellen, da Silva Costa, Fabricio, Vink, Rebecca, Alkhunaizi, Ebba, Russell, Laura, Buckley, Michael F., Roscioli, Tony, Pereira, Elaine Maria, Ganapathi, Mythily

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Lip squamous cell carcinoma in a Brazilian population: epidemiological study and clinicopathological associations von Souza, R-L, Fonseca-Fonseca, T, Oliveira-Santos, C-C, Corrêa, G-T-B, Santos, F-B-G, Cardoso, C-M, Sant' Ana-Haikal, D, Guimarães, A-L-S, Batista-De Paula, A-M-B

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Heterotaxy in a patient with Noonan syndrome due to a RRAS2 variant von Higgins, Simone, Reynoso Santos, Francis Jeshira

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eP288 - Heterotaxy in a patient with Noonan syndrome due to a RRAS2 variant von Higgins, Simone, Reynoso Santos, Francis Jeshira

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P401: Patients from historically marginalized backgrounds are referred to clinical genetics at lower rates in a large academic health system von Priestley, Jessica, Campbell, Ian, Opio, Paula Roig, Ganetzky, Rebecca, Reynoso Santos, Francis Jeshira, Dalembert, George

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P532: Development, implementation, and preliminary results of rapid targeted genomic analysis in the newborn period von Bedoukian, Emma, Reichert, Sara, DeChene, Elizabeth, Heck, Alexandra, Hershey, Jennifer, McManus, Morgan, Marchese, Michelle, Mulchandani, Surabhi, Reynoso Santos, Francis Jeshira, Wild, K. Taylor, Wood, Kathleen, Conlin, Laura, Dulik, Matthew, Rajagopalan, Ramakrishnan, Spinner, Nancy, Krantz, Ian

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Correlation between symptoms and course duration of upper aerodigestive tract cancer at early and advanced stages von Santos, Francis Balduino Guimarães, Vasconcelos-Raposo, Jose Jacinto Branco, Figueiredo, Maria do Carmo Tolentino

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eP199 - 22q11.2 duplication plus: exome sequencing reveals dual diagnoses in patients with 22q11.2 duplication and unexplained phenotypic features von Meneses, Zaimary, Durant, Jenna, Reynoso Santos, Francis Jeshira

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Novel 22q11.2 duplication (LCR22A-LCR22H) in two sisters von Durant, Jenna, Meneses, Zaimary, Reynoso Santos, Francis Jeshira

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eP255 - Novel SOX10 variant in a girl with Waardenburg syndrome type 2E von Exantus, Raiza, Shah, Sweeti, Reynoso Santos, Francis Jeshira

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