We analyzed 15,767 DNA samples from children referred to Signature Genomic Laboratories, LLC, with a general diagnosis of intellectual disability (ID) and/or developmental delay (DD), although we note that this ID/DD cohort also includes a constellation of phenotypes including, but not restricted to, congenital malformation, hypotonia and feeding difficulties, speech and motor deficits, growth retardation, cardiovascular and renal defects, epilepsy, hearing impairment, craniofacial and skeletal features, and behavioral issues. Overall 73% of cases suffer from ID/DD and/or autism spectrum disorder, while 12% of cases were not annotated. The remainder were classified with various congenital abnormalities. Detailed phenotypic information is limited to 48.4% of the cases where specific subclassifications could be made, including 575 cases with cardiovascular defects, 1,776 cases with epilepsy/seizure disorder, 1,379 with autism spectrum disorder, and 3,898 with craniofacial defects (Supplementary Tables 1 & 2).
