Case#: Patient 15, born in 2001 (paper published in 2017), 13 months (age at first treatment), 2 years 9 months (age at last treatment)

DiseaseAssertion: MPSI-H

FamilyInfo: N/A

CasePresentingHPOs: Corneal clouding (HP:0007957)

CaseHPOFreeText: N/A

CaseNotHPOs: Retinopathy, cataract (HP:0000488, HP:0000518)

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 25 ng/mol (56 weight matched enzyme reference assay)

CaseUrineGAGs: 0.80 DS/CS

CaseERT: No

CaseBMT: Yes, from mother

Variant1: c.783delC is not a known variant in IDUA; there is a C at position 783 but the only known variants are c.784del

Variant1ClinVarID: N/A

Variant1CAID: N/A

Variant2: c.783delC; same as above

Variant2ClinVarID: N/A

Variant2CAID: N/A

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A