Case#: Patient 21, born in 2000 (paper published in 2017), 22 months (age at first 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: 48 ng/mol (36 weight matched enzyme reference assay)

CaseUrineGAGs: 0.63 DS/CS

CaseERT: No

CaseBMT: Yes, MUD

Variant1: c.1205G>A (p.W402X)

Variant1ClinVarID: 11908

Variant1CAID: CA220498

Variant2: c.64_65delC (p.Pro22GlyfsTer?)

Variant2ClinVarID: N/A

Variant2CAID: CA3246685724

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A