Case#: Patient 16 (see Table 2), Gestational age unavailable

DiseaseAssertion: MPS1-H

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 0.32 nmol x mg-1 × hr-1

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: (p.H425fs) - unknown what the protein change is due to the frameshift

Variant1ClinVarID: N/A

Variant1CAID: N/A

Variant2: (p.H425fs) - unknown what the protein change is due to the frameshift

Variant2ClinVarID: N/A

Variant2CAID: N/A

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A