ARSB and mucopolysaccharidosis type 6: Here, we present a case of MPS VI in a patient with compound heterozygous pathogenic variants in ARSB: a missense variant (c.908G > T, p.Gly303Val) and a paracentric inversion disrupting intron 5 of ARSB. Chromosome rearrangements, such as inversions, can occur with or without causing phenotypic abnormalities and are often associated with gene damage or disturbances in genome regulation.