CTSK	cathepsin K
GCase	β-glucocerebrosidase
GD	Gaucher disease
GLA	α-galactosidase
GM2AP	GM2 activator protein
ID	intellectual disability
LAMAN	α-mannosidase (also known as MAN2B1)
LSDs	Lysosomal Storage Diseases
MAF	minor allele frequency
MFSD8	Major Facilitator Superfamily Domain Containing 8
MGT	molecular genetic testing
MPS	Mucopolysaccharidosis
NAGLU	α-N-acetylglucosaminidase
NCL	neuronal ceroid lipofuscinosis
NGS	Next-generation sequencing
NMD	nonsense mediated mRNA decay
PTC	premature termination codon
SNP	single-nucleotide polymorphism
VUS	variants of unknown significance
WES	whole exome sequencing
WGS	whole genome sequencing