We report 25 individuals with NDD linked to CMIP, including six different truncating single nucleotide variants (SNVs) (28%). The remaining 18 individuals (72%) had a complete or partial deletion of CMIPwhich also included additional protein coding genes. We identified no alternative pathogenic variants, and the few co-deleted genes identified showed only limited or indirect evidence of pathogenicity. We recommend inclusion of CMIPin the genetic work-up of neurodevelopmental delay, with or without autism or psychiatric disorders and epilepsy.
CMIP