ARSB	arylsulfatase B
ASMD	acid sphingomyelinase deficiency
BMI	body mass index
CMR	cardiac magnetic resonance imaging
CNS	central nervous system
CTS	carpal tunnel syndrome
ECG	electrocardiogram
ECHO	echocardiogram
EF	ejection fraction
FLAIR	fluid-attenuated inversion recovery
GAGs	glycosaminoglycans
GALNS	N-acetylgalactosamine-6-sulfatase
GALC	galactosylceramidase
Ht	height
ID	intellectual disability
IDUA	alpha-L-iduronidase
IDS	iduronate 2-sulfatase
LALD	lysosomal acid lipase deficiency
LSD	lysosomal storage disease
LVH	left ventricular hypertrophy
MANBA	mannosidase beta
MAN2B1	mannosidase alpha class 2B member 1
MLD	metachromatic luekodystrophy
MPS	mucopolysaccharidosis
MRI	magnetic resonance imaging
NCS	nerve conduction studies
NPC	Niemann–Pick C
OSA	obstructive sleep apnoea
PFTs	pulmonary function test
SMPD1	sphingomyelin phosphodiesterase 1
SUMF1	sulfatase modifying factor 1
RBBB	right bundle branch block
RP	retinitis pigmentosa
SHSH	N-sulfoglucosamine sulfohydrolase
VUS	variant of unknown significance
USS	ultrasound
Wt	weight