^○Toshiyuki Yamamoto¹, Keiko Shimojima¹, Nobuhiko Okamoto² (1.Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan, 2.Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan)

^○Kaori Irahara¹, Norio Sakai² (1.Division of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan, 2.Division of Health Science, Osaka University Graduate School of Medicine, Osaka, Japan)

^○Tomoko Kobayashi^1,2,3, Hiroshi Kawame^1,2 (1.Department of Pediatrics, Tohoku University Hospital, Sendai, Japan, 2.Division of Genomic Medicine Support and Genetic Counseling, Department of Education and Training, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan, 3.Department of Genomic Medicine Education, Tohoku Medical Megabank Organization, Tohoku University)

^○Eiji Nanba^1,2, Kaori Adachi¹, Yuji Nakayama¹, Tohru Matuura³, Kazuhiro Ishii⁴, Yu-ichi Goto⁵ (1.Research Center for Bioscience and Technology, Tottori University, Yonago, Japan, 2.Clinical Genetics, Tottori University Hospital, Yonago, Japan, 3.Division of Neurology, Department of Medicine, Jichi Medical University, Tochigi, Japan, 4.Department of Neurology, Institute of Clinical Medicine, Majors of Medical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Japan, 5.National Center of Neurology and Psychiatry, and Japan Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan)

^○Tomoko Saikusa¹, Koutaro Yuge¹, Machiko Kawaguchi², Tetsuji Tanioka³, Tosiharu Ikenaga⁴, Chisato Hirayama⁵, Tatsuyuki Kakuma², Kazuhiro Iwama⁶, Naomichi Matsumoto⁶, Shinichiro Nagamitsu¹, Yushiro Yamashita¹, Toyojiro Matsuishi⁷, Masayuki Ito⁸ (1.the Department of Pediatrics and Child Health Kurume University School of Medicine, Kurume,Japan, 2.Biostatistics Center, Kurume University,Fukuoka, Japan, 3.npo rett syndrome support organization, Osaka,Japan, 4.Japan Rett Syndrome Association, Tokyo, Japan, 5.Sakurannbo, Fukuoka, Japan, 6.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 7.Rett syndrome research center, St Mary's Hospital, Fukuoka,Japan, 8.National center of Neurology and Psychiatry)

^○Tomonari Awaya^1,6, Tetsuya Okazaki^2,6, Masaharu Hayashi^3,6, Hirofumi Komaki^4,6, Akinori Moriichi⁵, Naoko Kakee⁵ (1.Department of Anatomy and Developmental Biology, Kyoto University Graduate School of Medicine, Kyoto, Japan, 2.Division of Child Neurology, Institute of neurological Sciences, Faculty of Medicine, Tottori University, Tottori, Japan, 3.School of Nursing, College of Nursing and Nutrition, Shukutoku University, Chiba, Japan, 4.Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan, 5.Department of Clinical Epidemiology, Center for Clinical Research and Development, National Center for Child Health and Development, Tokyo, Japan, 6.Rare disease comittee, Japanese Society of Child Neurology, Tokyo, Japan)

^○Masahide Goto¹, Ayumi Matsumoto¹, Eriko Jimbo¹, Hitoshi Osaka¹, Kei Oohashi², Shinji Saito², Takanori Yamagata¹ (1.Department of Pediatrics, Jichi Medical University, Shimotsuke, Japan, 2.Department of Neonatology and Pediatrics, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan)