Acknowledgments
We extend our sincere gratitude to the children and their families whose participation made this study possible. We also thank the medical professionals involved for their expert clinical assessments, thoughtful project oversight, and constructive feedback throughout the course of this research. We are particularly grateful to the administrative, technical, and support staff at Pomarino Praxis für Ganganomalien in Hamburg for their careful data acquisition and coordination of the study. We further acknowledge Labor Dr. Heidrich & Colleagues for providing specialized genetic testing and expert analytical support.
Funding Statement
This research did not receive any specific grant from any funding agency in the public, commercial, or not-for-profit sectors.
Ethical statement
This study was conducted in accordance with the ethical principles of the World Medical Association Declaration of Helsinki. All procedures were performed in compliance with relevant laws and institutional guidelines and were approved by the ethical board of the Deutschen Verbandes für Physiotherapie an der Physio-Akademie in Wremen, Germany (project number 2025–02). Prior to participation, written informed consent was obtained from all subjects. The consent process included explanations of the study’s purpose, procedures, and any potential implications of the results. All data collected were formally anonymized to protect participant confidentiality. This manuscript was prepared in accordance with the International Committee of Medical Journal Editors (ICMJE) recommendations.
CRediT authorship contribution statement
David Pomarino contributed to the conceptualization of the study, data curation, and formal analysis. Amel Sidi Athmane contributed to data curation and investigation and drafted the original manuscript. Bastian Fregien and Alexander Nazarkin contributed to the study methodology and validation. Kevin M. Rostásy contributed to formal analysis, supervision, validation, and manuscript review and editing. All authors reviewed and approved the final manuscript.
Data availability
Raw next-generation sequencing data were generated as part of routine clinical diagnostics and are not publicly available because of ethical, privacy, and institutional restrictions governing human genetic data. De-identified variant-level data supporting the findings of this study are provided in Supplementary Table 2. Additional anonymized data may be made available from the corresponding author upon reasonable request and subject to ethical approval.
Declaration of Competing Interest
The Authors declare that there is no conflict of interest.
Declaration of Generative AI and AI-assisted technologies in the writing process
Generative AI Deepseek was used in the writing phase of this manuscript exclusively for linguistic polishing and enhancing clarity. All scientific reasoning, data analysis, and intellectual substance remain the sole contribution of the authors. The AI was not employed in the research process itself.
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