To accurately diagnose this disease with complex phenotypic heterogeneity, WES was performed and a novel heterozygous single base insertion in exon 13 of IDUA (c.1815dupT, p.V606Cfs51*) and a known compound heterozygous mutations in exon 8 of IDUA (c.T1037G, p.L346R) were identified in this MPS I Chinese family. Here, IDUA is linked to Scheie syndrome.