Intellectual disability (ID) is a common cause of referral to the pediatricians, geneticists, and pediatric neurologists. A thorough clinical evaluation and a stepwise investigative approach using a combination of traditional genetic techniques and appropriate latest genomic technologies can help in arriving at a diagnosis. In the current "omics" era, adopting a multiomics approach would further assist in solving the undiagnosed cases with intellectual disability.
Keywords: Diagnostic yield; Exome sequencing; Genome sequencing; Global developmental delay; Intellectual disability.
© 2022. The Author(s), under exclusive licence to Dr. K C Chaudhuri Foundation.