Hypotonia-ataxia-developmental delay syndrome caused by <i>EBF3</i> variant in a child: a case report and literature review

LI Huijing; RUAN Miaohua; WANG Dan; LU Chaosheng

doi:10.16766/j.cnki.issn.1674-4152.004354

Volume 24 Issue 1

Jan. 2026

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Article Navigation > Chinese Journal of General Practice > 2026 > 24(1): 168-170

LI Huijing, RUAN Miaohua, WANG Dan, LU Chaosheng. Hypotonia-ataxia-developmental delay syndrome caused by EBF3 variant in a child: a case report and literature review[J]. Chinese Journal of General Practice, 2026, 24(1): 168-170. doi: 10.16766/j.cnki.issn.1674-4152.004354

Citation:

LI Huijing, RUAN Miaohua, WANG Dan, LU Chaosheng. Hypotonia-ataxia-developmental delay syndrome caused by EBF3 variant in a child: a case report and literature review[J]. Chinese Journal of General Practice, 2026, 24(1): 168-170. doi: 10.16766/j.cnki.issn.1674-4152.004354

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Hypotonia-ataxia-developmental delay syndrome caused by EBF3 variant in a child: a case report and literature review

doi: 10.16766/j.cnki.issn.1674-4152.004354

Department of Pediatrics, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325000, China

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82070834

Received Date: 2025-07-10
Available Online: 2026-04-01

Abstract

Abstract

This study analyzed the clinical phenotype and genetic etiology of a 14-month-old patient patient diagnosed with hypotonia-ataxia-developmental delay syndrome (HADDS) who was admitted to the Department of Pediatric Neurology at the First Affiliated Hospital of Wenzhou Medical University in August 2024. The patient presented with "developmental delay for over six months" as the chief complaint, exhibiting clinical manifestations including hypotonia, global developmental delay, characteristic facial features, and ataxia. Whole-exome sequencing of the family identified a nonsense variant c.1038C>A (p.Y346*) in the EBF3 gene of the proband, which was absent in both parents as confirmed by Sanger sequencing. According to the American College of Medical Genetics and Genomics standards, this variant was classified as pathogenic. Through literature review summarizing relevant disease manifestations and genetic characteristics, this case not only expands the variant spectrum of EBF3 -related HADDS but also enriches its clinical phenotype, providing new evidence and case reference for research on this disorder.
- Hypotonia-ataxia-developmental delay syndrome,
- EBF3 gene,
- Whole-exome sequencing,
- Autosomal dominant inheritance

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References(22)

References

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Hypotonia-ataxia-developmental delay syndrome caused by EBF3 variant in a child: a case report and literature review

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