We found decreased gene expression levels in genes from 9 cases, including 5 cases with nonsense or frameshift variants associated with autosomal dominant (AD) Infantile Epileptic Encephalopathy with Severe Global Developmental delay (PPP3CA), autosomal recessive (AR) Alazami syndrome (LARP7), AD Mental Retardation Autosomal Dominant 19 (CTNNB1) and AR Diarrhea 10, protein-losing enteropathy type (PLVAP), AD ZTTK syndrome (SON) (Fig. 1C–F, Table 1). Here, CTNNB1 is linked to Alzheimer disease.