^○Kaori Aiba¹, Hajime Sakuma¹, Mari Sugimoto¹, Norihisa Koyama¹, Kenji Yokochi² (1.Department of Pediatrics,Toyohashi Municipal Hospital, Toyohashi, Japan, 2.Department of Pediatrics, Seirei Mikatahara General Hospital, Hamamatsu, Japan)

^○Ayako Kashimada, Setsuko Hasegawa, Tomohiro Morio, Masatoshi Takagi (Department of Pediatric & Developmental Biology, Graduate School of Med & Den Scicence, Tokyo Med & Dental University,Tokyo, Japan)

^○Kyoko Takano^1,2,3, Mitsuo Motobayashi⁴, Yuji Inaba⁴, Tetsuhiro Fukuyama⁵, Shinichi Hirabayashi⁵, Eriko Nishi³, Noboru Fueki⁶, Yamaguchi Tomomi², Keiko Wakui^1,2, Tadashi Kaname^7,8, Kenichiro Hata^8,9, Tomoki Kosho^1,2,3, Yoshimitsu Fukushima^1,2,8 (1.Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan, 2.Center for Medical Genetics, Shinshu University Hospital, Matsumoto,Japan, 3.Division of Medical Genetics, Nagano Children's Hospital, Azumino, Japan, 4.Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan, 5.Division of Neurology, Nagano Children's Hospital, Azumino, Japan, 6.Division of Rehabilitation Medicine, Shinano Iryofukushi Center, Shimosuwa, Japan, 7.Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan, 8.Initiative on Rare and Undiagnosed Diseases in Pediatrics, Tokyo, Japan, 9.Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan)