Case#: Patient 1, 9 years old, Iranian

DiseaseAssertion: MPSI-H (Severe)

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 0.12 µmol/g.h (Normal ranges: 10-50 µmol/g.h)

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.469T>C (p.S157P)

Variant1ClinVarID: N/A

Variant1CAID: CA355961573

Variant2: c.469T>C (p.S157P)

Variant2ClinVarID: N/A

Variant2CAID: CA355961573

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A

Case#: Patient #3 (see Table 2), male, 15 months old (age at diagnosis), 5 years old (age at report).

DiseaseAssertion: MPS-I

FamilyInfo: Born to a consanguineous family

CasePresentingHPOs: Macrocephaly, corneal clouding, hearing loss (HP:0000256, HP:0007957, HP:0000365)

CaseHPOFreeText: Normal intelligence

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: α-L-iduronidase 15.6 pmol/spot. The activity of this enzyme is below its reference (200–2600 pmol/spot).

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.1A>C (p.M1L)

Variant1ClinVarID: 550458

Variant1CAID: CA355945204

Variant2: c.469T>C (p.S157P)

Variant2ClinVarID: N/A

Variant2CAID: CA355961573

AdditionalVariants: N/A

ParentalGenotype: Variant c.1A>C was paternally inherited and variant c.469T>C was maternally inherited.

PreviouslyPublished N/A