| ASD | Autism spectrum disorder |
| CMA | Chromosomal microarray analysis |
| CNV | Copy number variant |
| ADI-R | Autism Diagnostic Interview–Revised |
| ADOS-2 | Autism Diagnostic Observation Schedule, Second Edition |
| ACMG | American College of Medical Genetics and Genomics |
| ADHD | Attention-deficit/hyperactivity disorder |
| AOH | Absence of heterozygosity |
| VUS | Variant of uncertain significance |
| WES | Whole-exome sequencing |
| SNP | Single nucleotide polymorphism |
| OCD | Obsessive–compulsive disorder |
| GAD | Generalized anxiety disorder |
| MDD | Major depressive disorder |
| DMDD | Disruptive mood dysregulation disorder |
| ODD | Oppositional defiant disorder |