Case#: Infant 4

DiseaseAssertion: N/A

FamilyInfo: Has an older sibling who is asymptomatic, has normal urine GAGs, and shares the same genotype.

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 0.2 nmol/h/mg; normal range, 6-71.4 nmol/h/mg

CaseUrineGAGs: 18.61 mg/mmol creatinine; normal ranges, 0-53 mg/mmol creatinine. Heparan sulfate was slightly elevated at 7.46 g/mol creatinine (normal, 0-5.71 g/mol creatinine) in 2 separate specimens.

CaseERT: N/A

CaseBMT: N/A

Variant1: c.720C>G (p.H240Q)

Variant1ClinVarID: 1011483

Variant1CAID: CA355962130

Variant2: c.1112T>A (p.V371D)

Variant2ClinVarID: 1470032

Variant2CAID: CA355963356

AdditionalVariants: N/A

ParentalGenotype: c.720C>G (maternal); c.1112T>A (paternal)

PreviouslyPublished N/A