[P11] Gene abnormality

[P-068] Rett—like features and cortical visual impairment in a Japanese patient with HECW2 mutation

Haruhiko Nakamura¹, MITSUGU UEMATSU², YURIKA UEMATSU², YU ABE², WAKABA ENDO², ATSUO KIKUCHI², YUSUKE TAKEZAWA², KAZUHIRO HAGINOYA³, SHIGEO KURE² (1.The Third Department of Internal Medicine, University of Tohoku, Miyagi, Japan, 2.The Third Department of Internal Medicine, University of Tohoku, Miyagi, Japan, 3.Miyagi children's hospital, Miyagi, Japan)