Case#: Patient 14, male, 10 years (age at presentation).

DiseaseAssertion: MPS1-H/S

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

CasePresentingHPOs: Corneal clouding, coarse facial features, dystosis multiplex, hepatomegaly, joint contractures, short stature (HP:0007957, HP:0000256, HP:0000943, HP:0002240, HP:0100790, HP:0004322)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: N/A

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.158+5delinsAA

Variant1ClinVarID: N/A

Variant1CAID: CA2586973515

Variant2: c.895G>T (p.E299X)

Variant2ClinVarID: 987878

Variant2CAID: CA355962511

AdditionalVariants: N/A

ParentalGenotype: Father was a carrier for c.158+5delGClinsAA (also written as c.158+5delinsAA); mother was a carrier for c.895G>T

PreviouslyPublished N/A