Case#: 10, Female, Han Chinese

DiseaseAssertion: Hurler-Scheie Syndrome

FamilyInfo: Not Provided

CasePresentingHPOs: HP:0001433, HP:0001387, HP:0007957 (Hepatosplenomegaly, Joint Stiffness, Corneal Clouding)

CaseHPOFreeText: Slight Mental Delay

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 0.18 Leukocyte IDUA activity (nmol/h/mg protein) (isolated leukocytes in the latter)

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

GenotypingMethod: Using the artificial substrate 4-methyl-umbelliferyl α-L-iduronide (Sigma)

Variant1: c.1190-1G>A

Variant1ClinVarID: 1204494

Variant1CAID: CA355963511

Variant2: p.R363H

Variant2ClinVarID: N/A

Variant2CAID: CA355963308

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A