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. 2021 May 3;23(8):1474–1483. doi: 10.1038/s41436-021-01158-1

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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 license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license 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 license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 4 — (a) Facial features of the affected individuals reported in this study. The age in years (y) and months (m) is reported beside each patient ID. (b) Combined facial gestalt obtained by combining frontal photos using the Face2Gene online research tool (see Materials and Methods and Web Resources). Photos from 12 different patients, including those depicted in (a), were used for this purpose. (c) Family tree of family number 6 in this study. M+/−/? = presence (+), absence (−), or unknown status (?) for the p.Asp1158Glyfs*11 variant in each NSD2 allele. Clinically affected individuals are shown as full symbols.