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. 2021 Oct 25;30(1):117–125. doi: 10.1038/s41431-021-00981-z

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© The Author(s) 2021

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. 3 — A Stacked bar plot showing the length of each diagnostic subinterval (Interval 1, 2, 3, 4, and 5) per individual, grouped by time of first symptom onset. Cohort is subdivided by availability of NGS-based diagnostics after April 1, 2016. Only individuals for which the duration of all diagnostic intervals could be calculated were included for this figure (n = 84). Colors as in Fig. 1B. B Violin- and scatter-plot of the total diagnostic time interval (Interval 1–5, first symptoms to final diagnosis) grouped by first symptom onset. (p < 0.001, Wilcox-Test). C Violin- and scatter-plot assembling the total diagnostic time interval (Interval 1–5) grouped by phenotype according to the time of onset of first symptoms. Individuals with a combination of both phenotypes were assigned to the phenotype that occurred first. (After Apr16: p ~ 0.002, Wilcox-Test). D Violin- and scatter-plot assembling Interval 1–3 (first symptoms to initiation of first genetic diagnostics) and Interval 4–5 (initiation of first genetic diagnostics to final diagnosis) grouped by onset symptoms. (After Apr16: p < 0.001, Wilcox-Test).