Case#: Patient 3 was biochemically diagnosed with MPS I because they showed an increase in urinary GAGs and a reduction in IDUA activity in leukocytes. Patient 3 was diagnosed at 2 years.

DiseaseAssertion: MPSI-H/S

FamilyInfo: N/A

CasePresentingHPOs: Coarse facies, corneal clouding, skeletal abnormalities (HP:0000256, HP:0007957, HP:0002360)

CaseHPOFreeText: N/A

CaseNotHPOs: Cardiac abnormalities, hepatosplenomegaly, intellectual disability, growth delay, hernias (HP:0001627, HP:0001433, HP:0001249, HP:0001510, HP:0100790)

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: IDUA activity of 5.9 nmol/mg/protein/hr. No reference range provided.

CaseUrineGAGs: 2439.5 CPC unit/g creatinine. No reference range provided.

CaseERT: N/A

CaseBMT: N/A

Variant1: c.613_617dup (p.E207Afs*29)

Variant1ClinVarID: 11921

Variant1CAID: CA256123

Variant2: c.1591delC (p.R531Gfs*29)

Variant2ClinVarID: 556184

Variant2CAID: CA658823295

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A

Case#: Patient 1 was biochemically diagnosed with MPS I because they showed an increase in urinary GAGs and a reduction in IDUA activity in leukocytes. Patient 1 was diagnosed at 2 years and 3 months.

DiseaseAssertion: MPSI-H

FamilyInfo: N/A

CasePresentingHPOs: Coarse facies, corneal clouding, intellectual disability, skeletal abnormalities, cardiac abnormalities, and hepatosplenomegaly (HP:0000256, HP:0007957, HP:0001249, HP:0002360, HP:0001627, HP:0001433)

CaseHPOFreeText: N/A

CaseNotHPOs: Growth delay, hernias (HP:0001510, HP:0100790)

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: IDUA activity of 1.92 nmol/mg/protein/hr. No reference range provided.

CaseUrineGAGs: 1115.4 CPC unit/g creatinine. No reference range provided.

CaseERT: N/A

CaseBMT: N/A

Variant1: c.613_617dup (p.E207Afs*29)

Variant1ClinVarID: 11921

Variant1CAID: CA256123

Variant2: c.683delC (p.P228Hfs*6)

Variant2ClinVarID: N/A

Variant2CAID: CA2580610937

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A