Case#: Patient 16, born in 2004 (paper published in 2017), 15 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: 52.1 ng/mol (26 weight matched enzyme reference assay)

CaseUrineGAGs: 0.22 DS/CS

CaseERT: Yes

CaseBMT: Yes, Cord

Variant1: c.386-2A>G

Variant1ClinVarID: 222994

Variant1CAID: CA356991

Variant2: c.41T>G (p.L14R)

Variant2ClinVarID: N/A

Variant2CAID: CA355945322

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A