This report evaluates the clinical utility of whole genome sequencing (WGS) and whole exome sequencing (WES) in patients with a primary phenotype of intellectual disability (ID). In general, ID may be associated with other neurological disorders, various genetic syndromes, and autism spectrum disorders. However, this report focuses on patients whose primary phenotype of concern was documented as ID. The clinical utility of WGS and WES in patients identified as having general neurodevelopmental disorders or global developmental delay is addressed in a separate report.
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