The deleted region spans exons 1 to 3 and part of intron 3 of IMMP2L. Loss of this part of the gene has been reported in various neuropsychiatric disorders, including autism spectrum disorder (ASD), psychomotor delay, Gilles de la Tourette syndrome (GTS), and a subtype of schizophrenia (SCZ) characterized by increased plasma pentosidine (PEN-SCZ) (Yoshikawa et al., 2022). The gene discussed is IMMP2L; the disease is autism spectrum disorder.