| DDX3X | DEAD-Box Helicase 3 X-Linked |
| IDD | Intellectual and developmental disabilities |
| DSM-V | Diagnostic and Statistical Manual of Mental Disorders |
| WES | Whole exome sequencing |
| MRI | Magnetic resonance imaging |
| PWS/AS MLPA | Multiplex ligation-dependent probe amplification |
| EEG | Electroencephalogram |
| aCGH | Array-Comparative Genomic Hybridization |
| ASD | Autism Spectrum Disorder |
| SI | Sensory Integration |
| ICF-CY | International Classification of Functioning, Disability and Health for Children and Youth |
| VUS | Variant of Uncertain Significance |
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