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. 2021 May 30;23(9):1715–1725. doi: 10.1038/s41436-021-01196-9

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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. 2 — a Pedigrees and Sanger sequencing results of three families with monoallelic de novo variants in PLXNA1. b–d Photographs and brain magnetic resonance image (MRI) of affected patient of family G. b G:II-1 showing unilateral facial palsy, dysmorphic right auricle and bilateral sensorineural hearing loss due to agenesis of vestibulocochlear nerves requiring cochlear implants. c Midsagittal T1 MRI of G:II-1 showing absent posterior pituitary and mild hypoplasia of brainstem. d Coronal T2 MRI of G:II-1 showing mild dilatation of the ventricular system, delayed myelination including the periventricular region.