Case#: Patient 17, male, 4 years (age at presentation).

DiseaseAssertion: MPS1-H

FamilyInfo: Consanguinity in the family not present for this patient.

CasePresentingHPOs: Corneal clouding, coarse facial features, dystosis multiplex, global developmental delay, hepatomegaly, joint stiffness, splenomegaly, recurrent respiratory infection, umbilical hernia (HP:0007957, HP:0000256, HP:0000943, HP:0001263, HP:0002240, HP:0001387, HP:0001744, HP:0002205, HP:0001537)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: N/A

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.1115A>G (p.N372S)

Variant1ClinVarID: 554765

Variant1CAID: CA355963365

Variant2: c.1160T>C (p.L387P)

Variant2ClinVarID: 556106

Variant2CAID: CA355963451

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A