Case#: Patient 20, 2 years old (age at report), male, Indian

DiseaseAssertion: MPS1-H

FamilyInfo: N/A

CasePresentingHPOs: Coarse facial features, hepatosplenomegaly, intellectual disability (HP:0000280, HP:0001433, HP:0001249)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 4.0% (Range of residual enzyme activity: 0.0%-4.8%)

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.793-1G>A

Variant1ClinVarID: 557472

Variant1CAID: CA2802097

Variant2: c.793-1G>A

Variant2ClinVarID: 557472

Variant2CAID: CA2802097

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A