ADHD	Attention-deficit/hyperactivity disorder
ASD	Autism spectrum disorders
CNV	Copy number variant
CSNB	Congenital stationary night blindness
DD	Developmental delay
ES	Exome sequencing
GDD	Global developmental delay
GS	Genome sequencing
GoF	Gain-of-Function
HPO	Human Phenotype Ontology
ID	Intellectual disability
LoF	Loss-of-Function
LP	Likely pathogenic
MRD5	Intellectual developmental disorder-5
NDD	Neurodevelopmental disorders
OMIM	Online Mendelian Inheritance in Man
P	Pathogenic
SNV	Single-nucleotide variants
VUS	Variant of uncertain significance