Furthermore, a larger de novo deletion encompassing three genes, including CHRM3 was present in a male with learning disability, cryptorchidism, short stature and alopecia.21 A 763 kb duplication encompassing CHRM3 alone was detected in a male with intellectual and developmental delay, autistic behaviour, short stature, and hand anomalies.22 It is important to note that the parents in the original report and in our family with heterozygous CHRM3 variants are clinically normal. Here, CHRM3 is linked to Global developmental delay.