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

[P2-04-7] A familial case of neurodevelopmental disorders caused by a maternally inherited variant in the KMT5B gene

Kyoko Takano^1,2, Kumiko Yanagi^3,4, Yuji Inaba⁵, Tomomi Yamaguchi^1,2,6, Keiko Wakui^1,2, Tomoki Kosho^1,2,6,7,8 (1.Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan, 2.Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan, 3.Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan, 4.Initiative on Rare and Undiagnosed Diseases in Pediatrics, Tokyo, Japan, 5.Division of Neuropediatrics, Nagano Childrenʼs Hospital, Azumino, Japan, 6.Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan, 7.Research Center for Supports to Advanced Science, Shinshu University, Matsumoto, Japan, 8.BioBank Shinshu, Shinshu University Hospital, Matsumoto, Japan)

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