Samples from individuals with ID/DD and related phenotypes were submitted to Signature Genomic Laboratories, LLC, mostly from the U.S. and Canada, for clinical microarray-based CGH; a total of 15,767 samples were analyzed and 16,526 rare autosomal CNV calls were detected (Supplementary Table 1) and deposited into dbVar (dbVar study accession nstd54)52. Informed consent was obtained to publish clinical information and photographs and to further characterize the CNVs present in the individuals with detailed information presented in this paper, using a protocol approved by the Institutional Review Board. Although not a random set of children with ID/DD, the presentations are representative of those observed in a clinical diagnostic setting. The majority of the individuals have an ID/DD phenotype; however, clinical features such as craniofacial and skeletal features, growth retardation, cardiovascular and renal defects, hypotonia, speech and motor deficits, hearing impairment, epilepsy, and behavioral problems were also documented. We identified 575 cases with cardiovascular defects, 1,776 cases with epilepsy/seizure disorder, 1,379 cases with autism spectrum disorder, 3,898 cases with craniofacial defects, and 8,772 cases with general neurological defects; many individuals had multiple
