1 individual was reported to have this variant from the cohort UK cohort of 145 people.

Genotype: NM_000203.3 c.1205G>A p.(Trp402Ter) c.1728-1G>C

HPOFreeText: Phenotype: Sev: 1 (H) "classification of a “severe” phenotype was based on the presence of one or more of the following: presentation with clinical features of MPS I and diagnosis before 12 months of age; significant developmental delay in a child with clinical features of MPS I under 30 months of age; sibling of a child with MPS I also classified as “severe phenotype.”"

GenotypingMethod: bidirectional Sanger sequencing of the IDUA gene. IDUA exons and adjacent intron regions were amplified by PCR reactions and then sequenced