Disease | Locus | Type of CNV | Phenotype | Refs |
---|
 | 16p11.2 | Deletion/Duplication | ASD | [88,89,90] |
 | 15q11.2 | Deletion | ASD | [91,92,93] |
Phelan-McDermid Syndrome | 22q13.3 | Deletion | ASD | [94,95,96,97] |
 | Xp22 | Deletion | ASD | [98, 99] |
 | 2p16.3 | Deletion | ASD | [100] |
 | 15q13.3 | Deletion | ASD | [101] |
Kleefstra syndrome | 9q34.3 | Deletion | ASD | [102,103,104] |
Down Syndrome | Chromosome 21 trisomy | Duplication | Hypersociability | [105,106,107] |