Genetic analysis using whole-exome sequencing (WES) identified a homozygous pathogenic variant of the GALNS gene (p.A492T), previously reported in association with mucopolysaccharidosis type IVA (Morquio syndrome) NM_000512.4: exon13: c.1474G>A: P.A492T. The gene discussed is GALNS; the disease is mucopolysaccharidosis type 4A.