Case#: Patient 5 was biochemically diagnosed with MPS I because they showed an increase in urinary GAGs and a reduction in IDUA activity in leukocytes. Patient 5 was diagnosed at 33 years.

DiseaseAssertion: MPSI-H/S

FamilyInfo: N/A

CasePresentingHPOs: Coarse facies, corneal clouding, growth delay, skeletal abnormalities, cardiac abnormalities, and hepatosplenomegaly (HP:0000256, HP:0007957, HP:0001510, HP:0002360, HP:0001627, HP:0001433)

CaseHPOFreeText: N/A

CaseNotHPOs: Hernias, intellectual disability (HP:0100790, HP:0001249)

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: IDUA activity of <1.0 nmol/mg/protein/hr. No reference range provided.

CaseUrineGAGs: 430.3 CPC unit/g creatinine. No reference range provided.

CaseERT: N/A

CaseBMT: N/A

Variant1: c.972+1G>A

Variant1ClinVarID: 198406

Variant1CAID: CA275387

Variant2: c.1730G>A (p.C577Y)

Variant2ClinVarID: N/A

Variant2CAID: CA355965312

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A