Acknowledgments:
This study was supported by a Health and Labor Sciences Research Grant for Research on Rare and Intractable Diseases and Comprehensive Research on Disability Health and Welfare from the Ministry of Health, Labour and Welfare of Japan (S.U. 20FC1048), and a Grant-in-Aid from the Japan Agency for Medical Research and Development (AMED) (S.U. 20ek0109363h0003). The authors thank the proband and his family members who participated in this study.