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. 2023 Sep 7;142(10):1429–1449. doi: 10.1007/s00439-023-02595-5

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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 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/.

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Fig. 4 — Phenotypes by genotype. The spectrum of phenotypes in cases with biallelic OTOF variants was subdivided according to genotype. Twenty-two percent of cases with two non-truncating alleles (NT/NT) had atypical (mild, moderate, temperature-sensitive, progressive, or unstable) phenotypes (A). Atypical phenotypes were present in 14% of cases with one non-truncating and one truncating allele (NT/T; B), and in 2.7% of cases with two truncating alleles (T/T; C). Hearing thresholds: 0–25 dB, normal; 26–40 dB, mild; 41–70 dB, moderate; 71–90 dB, severe; > 90 dB, profound