| ADOS-G | Autism Diagnostic Observation Schedule |
| AGAT | Arginine:glycine Amidinotransferase |
| ASD | Autism Spectrum Disorder |
| bp | Base Pair |
| CDS | Creatine Deficiency Syndrome |
| CARS | Childhood Autism Rating Scale |
| CrT | Creatine Transporter |
| ExAC | Exome Aggregation Consortium |
| GAMT | Guanidinoacetate Methyltransferase |
| MAC | Minor allele Count |
| MAF | Minor allele Frequency |
| NHLBI GO ESP | National Heart, Lung and Blood Institute Grand Opportunity Exome Sequencing Project |
| PDD-NOS | Pervasive Developmental Disorder–Not Otherwise Specified |
| SNP | Single Nucleotide Polymorphism |
| UTR | Untranslated Region |