De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.

Sureni Mullegama, Kaitlyn Kiernan, Erin Torti, Ethan Pavlovsky, Nicholas Tilton, Austin Sekula, Hua Gao, Joseph Alaimo, Kendra Engleman, Eric Rush, Karli Blocker, Katrina Dipple, Veronica Fettig, Heather Hare, Ian Glass, Dorothy Grange, Michael Griffin, Chanika Phornphutkul, Lauren Massingham, Lakshmi Mehta, Danny Miller, Jenny Thies, J Merritt, Eric Muller, Matthew Osmond, Sarah Sawyer, Rachel Slaugh, Rachel Hickey, Barry Wolf, Yueqing Zhang, Timothy Palculict, Aida Telegrafi, Deanna Carere, Ingrid Wentzensen, Michelle Morrow, Kristin Monaghan, Jane Juusola, Jun Yang