Case#: Infant 1

DiseaseAssertion: N/A

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 5.1 nmol/h/mg; normal range, 15.1-50.9 nmol/h/mg

CaseUrineGAGs: 22.6 mg/mmol creatinine; normal ranges, 0-53 mg/mmol creatinine

CaseERT: N/A

CaseBMT: N/A

Variant1: c.298A>G (p.R100G)

Variant1ClinVarID: 2058952

Variant1CAID: CA2801159

Variant2: c.300-20C>T

Variant2ClinVarID: 1415135

Variant2CAID: CA2801857

AdditionalVariants: c.1345C>A (p.H449N)

ParentalGenotype: c.298A>G (maternal); c.300-20C>T (paternal); c.1345C>A (paternal)

PreviouslyPublished N/A