GDD	Global developmental delay
ID	Intellectual disability
ASD	Autism spectrum disorder
AUC	Area under the curve
CNVs	Copy number variations
PWS	Prader–Willi syndrome
DSM-5	Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition
WES	Whole Exome Sequencing
DQ	Developmental quotient
IQ	Intellectual quotient
AMA	Advanced maternal age
ART	Assisted reproductive technology
LM-PCR	Ligation-mediated Polymerase Chain Reaction
SNVs	Single nucleotide variants
Indels	Insertions/deletions
MAF	Minor Allele Frequency
HGMD	Human Gene Mutation Database
ACMG	American College of Medical Genetics and Genomics
VUS	Variants of uncertain significance
ROC	Receiver operating characteristic
PR	Precision–recall
DCA	Decision curve analysis
DDD	Deciphering Developmental Disorders
CNS	Central nervous system
SHH	Sonic hedgehog
FGF	Fibroblast growth factor
BMP	Bone morphogenetic protein
CHD	Congenital heart disease
NDD	Neurodevelopmental disorder
ABC	Aberrant Behavior Checklist
CARS	Childhood Autism Rating Scale
ADOS	Autism Diagnostic Observation Schedule