Case#: Infant 3

DiseaseAssertion: N/A

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 2.18 nmol/h/mg; normal range, 6-71.4 nmol/h/mg

CaseUrineGAGs: 25.49 mg/mmol creatinine; normal ranges, 0-53 mg/mmol creatinine

CaseERT: N/A

CaseBMT: N/A

Variant1: c.900G>A (p.A300=) homozygous for this variant + homozygous with a 2nd variant

Variant1ClinVarID: 1107522

Variant1CAID: CA438057521

Variant2: c.904C>A (p.P302T) homozygous for this variant + the first variant

Variant2ClinVarID: 1067236

Variant2CAID: CA355962529

AdditionalVariants: N/A

ParentalGenotype: c.900G>A (homozygous); c.904C>A (homozygous)

PreviouslyPublished N/A