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Intellectual disability (ID) is a measurable phenotypic consequence of genetic and environmental factors. In this study, we prospectively assessed the diagnostic yield of genomic tools (molecular karyotyping, multi-gene panel and exome sequencing) in a cohort of 337 ID subjects as a first-tier test and compared it with a standard clinical evaluation performed in parallel. Standard clinical evaluation suggested a diagnosis in 16% of cases (54/337) but only 70% of these (38/54) were subsequently confirmed. On the other hand, the genomic approach revealed a likely diagnosis in 58%(n= 196). These included copy number variants in 14%(n= 54, 15% are novel), and point mutations revealed by multi-gene panel and exome sequencing in the remaining 43%(1% were found to have Fragile-X). The identified point mutations were mostly recessive (n= 117, 81%), consistent with the high consanguinity of the study cohort …