Abnormal
Case#: No additional case information provided
DiseaseAssertion: Not specified
FamilyInfo: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CaseEnzymeAssay: Abnormal
CaseUrineGAGs: Normal
CaseERT: N/A
CaseBMT: N/A
Variant1: c.1054T>C (p.F352L)
Variant1ClinVarID: 2432790
Variant1CAID: CA2802178
Variant2: c.1112T>A (p.V371D)
Variant2ClinVarID: 1470032
Variant2CAID: CA355963356
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A
4
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