Recessively inherited pathogenic P4HTM gene variants cause Hypotonia, Hypoventilation, Intellectual Disability, Dysautonomia, Epilepsy, and Eye Abnormalities (HIDEA syndrome)

Elisa Rahikkala, Matti Myllykoski, Reetta Hinttala, Paeivi Vieira, Naemeh Nayebzadeh, Simone Weiss, Astrid S. Plomp, Reginald Bittner, Mitja I. Kurki, Outi Kuismin, Andrea M. Lewis, Marja-Leena Vaesaeen, Hannaleena Kokkonen, Jonne Westermann, Gunther Bernert, Hannu Tuominen, Aarno Palotie, Lauri Aaltonen, Yaping Yang, Lorraine Potocki, Jukka Moilanen, Silvana Van Koningsbruggen, Xia Wang, Wolfgang M. Schmidt, Peppi Koivunen, Johanna Uusimaa

EUROPEAN JOURNAL OF HUMAN GENETICS（2022）

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