AS	Angelman syndrome
ANDP	Activity Dependent Neuroprotective Protein
ATRX	Alpha thalassemia/mental retardation X-linked
BWS	Beckwith–Wiedemann syndrome
BWSp	Beckwith–Wiedemann syndrome spectrum
CDM1	congenital Myotonic dystrophy type 1
CJS	Claes–Jensen syndrome
CNV	Copy number variation
CRD	Chromatin-Related Disorders
CVS	chorionic villi samples
DD/ID	Developmental delay and/or intellectual disability disorders
DM1	Myotonic dystrophy type 1
DNMT	DNA methyltransferase
FM	Full mutation
FSHD	Facioscapulohumeral Muscular Dystrophy
FXS	Fragile X syndrome
gDMR	Germline-derived differentially methylated region
GOM	gain of methylation
IC	Imprinting Centre
IG-DMR	Intergenic-differentially methylated region
Imp Dis	Imprinting Disorders
KOS	Kagami–Ogata syndrome
KS	Kabuki syndrome
LS	Lynch syndrome
LOM	Loss of methylation
mat	maternal
mCpG	methylation of cytosines preceding guanines
MLID	Multi-locus imprinting disturbances
MMR	mismatch repair
MS-MLPA	Methylation Specific Multiple Ligation-Dependent Probe Amplification
pat	paternal
PHP1B	Pseudohypoparathyroidism 1B
PM	premutation
PTH	parathyroid hormone
PWS	Prader–Willi syndrome
SCMC	Sub-cortical maternal complex
SnoRNA	small nucleolar RNA
SNV	Single-nucleotide variants
SRS	Silver–Russell syndrome
SS	Sotos syndrome
TNDM	Transient neonatal diabetes mellitus
TS	Temple syndrome
TSS–DMR	Transcription start site-differentially methylated region
UPD	uniparental disomy
VUS	variants of unknown significance