ACMG	American College of Medical Genetics and Genomics
AMP	Association for Molecular Pathology
aCGH	Array Comparative Genomic Hybridization
BGI	Beijing Genomics Institute
CMA	Chromosomal Microarray Analysis
CNS	Central Nervous System
CNV	Copy Number Variant
EEG	Electroencephalography
ES	Exome Sequencing
gnomAD	Genome Aggregation Database
IRB	Institutional Review Board
MLPA	Multiplex Ligation-Dependent Probe Amplification
MRI	Magnetic Resonance Imaging
SNV	Single-Nucleotide Variant
VUS	Variant of Uncertain Significance
WES	Whole-Exome Sequencing