[P2-04] Poster Session 2-04　Mendelian Disorders

[P2-04-6] Hemizygous SMARCA1 variants cause X-linked intellectual disability

Naoto Nishimura¹, Takeshi Mizuguchi¹, Keisuke Hamada², Kotaro Yuge³, Masamune Sakamoto^1,4, Naomi Tsuchida^1,4, Yuri Uchiyama^1,4, Atsushi Fujita¹, Eriko Koshimizu¹, Kazuharu Misawa^5,6, Satoko Miyatake^1,7, Yoriko Watanabe^3,8, Hitoshi Osaka⁹, Koh-Ichiro Yoshiura¹⁰, Kazuhiro Ogata^2,11, Naomichi Matsumoto^1,4,7 (1.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 2.Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 3.Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan, 4.Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan, 5.Yokohama City University Graduate School of Data Science, Yokohama, Japan, 6.RIKEN Center for Advanced Intelligence Project, Tokyo, Japan, 7.Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan, 8.Research Institute of Medical Mass Spectrometry, Kurume University School of Medicine, Kurume, Japan, 9.Department of Pediatrics, Jichi Medical University, Tochigi, Japan, 10.Department of Human Genetics and Leading Medical Research Core Unit, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan, 11.Graduate School, International University of Health and Welfare, Tokyo, Japan)

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