Specifically, 3 of the 7 pathogenic/pathogenic CNVs were known to cause syndromes, including 15q11-q13 microduplication syndrome (OMIM#608363), 2q31.1-q31.2 microdeletion syndrome (OMIM#142989), and Xp11.23 microduplication syndrome (OMIM#300801), while 3 were rare pathogenic CNV syndromes, each of which spanned dosage-sensitive genes related to NDD, including 12p13.33 microdeletion syndrome (CACNA1C involved), 6q25.3 microdeletion syndrome (ERMARD involved), and 19p13.2 microdeletion syndrome (CACNA1A involved). Here, CACNA1A is linked to Down syndrome.