P156: Cognitive decline, Parkinson-like features, and mutism lead to diagnosis of MECP2 in a 46 year old male by Laura Farach

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P380: Use of dextrose containing fluids and intralipids in a patient with KCNA1 related neuromyotonia by John Patton, Laura Farach

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P123: Report on a patient with a 28 Mb chromosome 2p duplication at 2p22.2p14: The largest 2p duplication described to date by Jessica Bolen, Kathryn Leal, Laura Farach

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P279: Triple diagnosis of X-linked chondrodysplasia punctata, MECP2-related disorder, and mosaic Jacobs syndrome in a male infant via rapid WGS by Kathleen Shields, Paul Hillman, Laura Farach

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P305: Dual diagnoses of mosaic SRY deletion and HSD17B3 deficiency in a patient with discordant fetal sex by Kathleen Shields, David Rodriguez-Buritica, Laura Farach

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A De Novo case of autosomal dominant mitochondrial membrane protein‐associated neurodegeneration by Stuart Fraser, Mary Koenig, Laura Farach, Pedro Mancias, Kate Mowrey

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P192: Heterozygous ACTB pathogenic variant causing Baraitser-Winter syndrome presenting with tracheal ring, intestinal atresia, and neonatal diabetes by Jeremy Hill, Kathleen Shields, David Rodriguez-Buritica, Laura Farach, Paul Hillman

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