ACMG	American College of Medical Genetics and Genomics
CdLS	Cornelia de Lange syndrome
cDNA	Complementary DNA
CNVs	Copy number variants
CRISPR-Cas9	Clustered regularly interspaced short palindromic repeats/CRISPR-associated protein 9
D-TGA	Dextro-looped transposition of the great arteries
EEG	Electroencephalography
FC	Fold change
gDNA	Genomic DNA
kb	Kilobase
MED13L	Mediator Complex Subunit 13-Like
MRFACD	Impaired intellectual development and distinctive facial features with or without cardiac defects
NCCs	Cranial neural crest cells
NMD	Nonsense-mediated decay
nt	Nucleotide
qPCR	Quantitative polymerase chain reaction
Rb	Retinoblastoma
SA-β-gal	Senescence-associated beta-galactosidase
SNP-CGH	Single Nucleotide Polymorphism array and Comparative Genomic Hybridisation array
SNP	Single Nucleotide Polymorphism
THRAP2	Thyroid Hormone Receptor-Associated Protein 2