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. 2019 Feb 5;10:605. doi: 10.1038/s41467-019-08493-7

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© The Author(s) 2019

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. 1 — Typical clinical features in patients. a–c Characteristic facial features including cataract extraction (b), microphthalmia, deep set eyes, and tented upper lip in two affected individuals (III-3, IV-4). Patient III-3 is shown at age of 1.5 years (b) and 3 years (c). d Severe truncal hypotonia featured by “frog-like” lying position. e Lower limb hypertrichosis. f Gastrostomy tube as well as vascular skin changes (livedo reticularis). g T1-sagital MR in patient III-3 showing hypoplastic corpus callosum (red arrow), cerebellar atrophy (yellow arrow), and cortical atrophy. h T2-axial magnetic resonance in patient IV-4 showing global cortical atrophy as manifested by enlarged ventricles (yellow arrow) and wide open Sylvian fissures consistent with temporal atrophy (red arrow)