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. 2020 Aug 26;15:222. doi: 10.1186/s13023-020-01508-3

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© The Author(s) 2020

Open AccessThis 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/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

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Fig. 1 — Pedigrees. Pedigrees from Czech (CZ) and Slovak (SK) families – probands and detected variants are marked. The square symbol is for men, circle for women and clinically affected members with hearing loss are filled-in black, rhomb shape – unknown gender, the number in inside the symbols represents the number of siblings. Persons tested genetically for the MANBA c.2158-2A>G variant are indicated in pedigrees as c.2158-2A>G or wt – wildtype. * - Patients with beta-mannosidosis diagnosed by biochemical and enzymatic examination. P - indicates the proband, the first affected family member referred for genetic examination. The point in inside the symbol represents the carrier of the pathogenic variant. Given the complexity of family SK7 relationships, we present only the relevant part of the pedigree. The pedigree of family SK8 is missing, we only know that all three are from one family, either siblings or cousins