Case#: Infant 2

DiseaseAssertion: N/A

FamilyInfo: Has an older sibling with the same genotype

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 0.3 nmol/h/mg; normal range, ≥1.0 nmol/h/mg

CaseUrineGAGs: 18.07 mg/mmol creatinine; normal ranges, 0-53 mg/mmol creatinine

CaseERT: N/A

CaseBMT: N/A

Variant1: c.721T>C (p.C241R)

Variant1ClinVarID: 3720559

Variant1CAID: CA355962132

Variant2: c.1163C>T (p.T388M)

Variant2ClinVarID: 558615

Variant2CAID: CA355963455

AdditionalVariants: N/A

ParentalGenotype: c.721T>C (paternal); c.1163C>T (maternal)

PreviouslyPublished N/A