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. 2024 Mar 11;32(5):576–583. doi: 10.1038/s41431-024-01581-3

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© The Author(s) 2024

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 — A Overall diagnostic rate for ID patients (25.62%, n = 281), of which 23.25% (n = 255) were found to have a heterozygous variant in a known dominant ID gene and 2.37% (n = 26) were found to have a homozygous variant in known recessive ID gene. B Diagnostic rate for patient subsets. The total diagnostic rate for moderate, severe, and profound ID (31.52%, n = 104) was higher than that of mild and unspecified ID (24.07%, n = 138). The total diagnostic rate for individuals without a family member with ID or a learning disability (26.7%, n = 160) was higher than that for individuals with a family member with ID/LD (24.31%, n = 121).