Fig. 1: Identification of SLITRK2 variants in individuals with NDD.

a Pedigree of families with rare SLITRK2 variants. b Representation of the SLITRK2 protein, including the different variants identified in individuals with NDD and not previously reported in the hemizygous state in the gnomAD database (Purple, variants occurring de novo in the proband or his mother; blue, variants inherited from unaffected mothers without additional information; green, variants identified in gnomAD in at least two hemizygous males).