Fig. 1: Genomic and protein schematic diagram with GATAD2B-associated neurodevelopmental disorder (GAND) variants.

All reported pathogenic GATAD2B variants from our study are represented as deletions, splice-site, or protein changes below the protein diagram. Genomic deletions are represented as bars below the figure. Previously reported variants and deletions are represented with gray letters and bars above the diagram. * monozygotic twins; # somatic mosaic family.