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. 2023 Apr 3;32(10):1214–1226. doi: 10.1038/s41431-023-01344-6

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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 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 Patients’ age-at-examination. The mean age-at-examination was 17.2 years. B Age-at-onset of the SCDs in our patients. The mean age-at-onset was 7.54 years. C Signs detected during patients’ examination. The percentages of patients with pyramidal and cerebellar signs are shown. The majority of our patients presented with pyramidal features. D Features complicating the SCDs phenotype in our cohort. Skeletal deformities, intellectual impairment, and developmental delay and/or regression are the most common features complicating the SCDs phenotype in our cohort.