Case#: Patient 12 (see Table 2), female, 20.9 years old (age at report), 9.3 years (duration of treatment), 10 surgeries

DiseaseAssertion: MPS1-HS

FamilyInfo: N/A

CasePresentingHPOs: HP:0002176 (Spinal cord compression)

CaseHPOFreeText: N/A

CaseNotHPOs: HP:0000238, HP:0002360 (Hydrocephalus, sleep abnormality)

CaseNotHPOFreeText: Shunt placement

CaseEnzymeAssay: N/A

CaseUrineGAGs: N/A

CaseERT: Yes

CaseBMT: N/A

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

Variant1ClinVarID: 11908

Variant1CAID: CA220498

Variant2: (Int11-7c>t) Current HGVS nomenclature is c.1651-7C>T

Variant2ClinVarID: 1147380

Variant2CAID: CA438057995

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A

Case#: CA-120 ID number, Table S1.1 of Supplementary Material. Female, 8 months old (age at first symptoms), 9 years and 6 months old (age at diagnosis). Stored frozen (-20ºC) 28 yr. May be the sibling of CA-119 due to closeness in ID numbers as well as having the same variants.

DiseaseAssertion: Attenuated MPS-I

FamilyInfo: N/A

CasePresentingHPOs: Ear infections (12 sets of tubes), hernia, joint contractures (HP:0410018, HP:0100790, HP:0100790)

CaseHPOFreeText: Perri Robin Syndrome, Adenoids removed (2x). Heart Valves, Spine, Contractures (No additional information provided about these symptoms).

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: N/A

CaseUrineGAGs: 399 fmol/punch

CaseERT: N/A

CaseBMT: N/A

Variant1: c.1651-7C>T

Variant1ClinVarID: 1147380

Variant1CAID: CA438057995

Variant2: c.1205G>A (p.W402X)

Variant2ClinVarID: 11908

Variant2CAID: CA220498

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A

Case#: CA-119 ID number, Table S1.1 of Supplementary Material. Male, at birth (age at first symptoms), 15 years and 6 months old (age at diagnosis). Stored frozen (-20ºC) 32 yr. May be the sibling of CA-120 due to closeness in ID numbers as well as having the same variants.

DiseaseAssertion: Attenuated MPS-I

FamilyInfo: N/A

CasePresentingHPOs: Premature birth, hernia (3), ear infections, joint contractures (HP:0001622, HP:0100790, HP:0410018, HP:0002828)

CaseHPOFreeText: Lung issues, hernia, spine heart (No additional information about these symptoms provided)

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: N/A

CaseUrineGAGs: 393 fmol/punch

CaseERT: N/A

CaseBMT: N/A

Variant1: c.1651-7C>T

Variant1ClinVarID: 1147380

Variant1CAID: CA438057995

Variant2: c.1205G>A (p.W402X)

Variant2ClinVarID: 11908

Variant2CAID: CA220498

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A