Presentation Information
[P2-08-12]Diagnosis of CLN5 in a Japanese Individual with Severe Neurological Impairment Using Trio Whole Genome Sequencing
○Eriko Nishi1, Kumiko Yanagi2, Kazumi Kawato1, Nobuhiko Okamoto1, Keiko Yanagihara3, Tadashi Kaname2 (1.Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan, 2.Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan, 3.Department of child neurology, Osaka Women's and Children's Hospital, Osaka, Japan)