The patient presented with intellectual disability, developmental delay, autistic behavior, limited or no speech, social withdrawal, self-injurious, feeding difficulties, strabismus, short stature, hand anomalie, and no seizures, anxiety, or mood swings, and clinodactyly.<h4>Conclusions</h4>We propose that CHRM3 is the critical gene responsible for the common characteristics in the cases with 1q43 duplication and deletion. This evidence concerns the gene CHRM3 and Intellectual disability.