WAC and Global developmental delay: We report the first documented case of DESSH in India, identified in a 3-year-old male presenting with global developmental delay and coarse facies.<h4>Results</h4>Exome sequencing revealed a novel heterozygous nonsense likely pathogenic variant (c.1661 C>A(p.Ser554*)) in the WAC gene, expanding the genotypic spectrum associated with this condition.