Case#: Patient 21, 2 years old (age at report), male, Indian

DiseaseAssertion: MPS1-H

FamilyInfo: N/A

CasePresentingHPOs: Coarse facial features, hepatosplenomegaly, recurrent infections (HP:0000280, HP:0001433, HP:0002719)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 2.9% (Range of residual enzyme activity: 0.0%-4.8%)

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.935G>A (p.Trp312Ter)

Variant1ClinVarID: N/A

Variant1CAID: CA355962697

Variant2: c.935G>A (p.Trp312Ter)

Variant2ClinVarID: N/A

Variant2CAID: CA355962697

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A