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. 2023 Jul 20;14:4392. doi: 10.1038/s41467-023-39539-6

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© The Author(s) 2023

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 2 — For each CNV, the proportion of carriers and non-carriers annotated with each HPO concept is plotted. Those above the diagonal were enriched among carriers, and those below were depleted. Odds ratios are represented by dot size. The selected phenotypes labeled were prioritized according to statistical evidence and clinical breadth. Full results for all associations reaching unadjusted P < 0.05 are provided in Supplementary Data 3. SUDEP sudden unexpected death in epilepsy, CNS central nervous system, EEG electroencephalogram.