Case report
Open access
Aug 2026
A novel de novo multi-exon deletion of SYT1 in a child with Baker-Gordon syndrome
This study describes a 13-month-old Chinese boy who presented with global developmental delay, axial hypotonia, stereotypic hand-flapping movements, limited vocalization, and mild facial dysmorphism and identifies a novel de novo heterozygous deletion spanning exons 6-8 of SYT1, which was subsequently confirmed by quan...
Xin Xu, Hong Xu, Ling Zhang et al.
· BMC Pediatrics · 0 citations