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

another individual with this variant, but PM3 has already been met and this variant is path without this additional case

Case#: Uttarilli Patient 6, male, 4yo at presentation

DiseaseAssertion: MPS1, Hurler-Scheie

FamilyInfo: non-consanguineous

CasePresentingHPOs: HP:0007957, HP:0000280, HP:0000943, HP:0002240, HP:0001744

CaseHPOFreeText: IDUA enzyme activity=0 (reference = 11–26 nmol/h/mg)

CaseNotHPOs:

CaseNotHPOFreeText:

GenotypingMethod: PCR of all exons of IDUA and IDS genes and bidirectional sequencing

PreviouslyPublished:

Variant: [c.223G>A] [p.Ala75Thr]; [c.895G>T] [p.Glu299*]

CAID: CA356994; CA355962511

SupplementalData: n/a

Case#: Cairns Patient 2, Thai, 2.5yo at dx

DiseaseAssertion: Hurler syndrome, MPS1

FamilyInfo:

CasePresentingHPOs: HP:0007957, HP:0000280, HP:0001433, HP:0000365, HP:0001249, HP:0034337

CaseHPOFreeText: The activity of leukocyte cc-iduronidase in both patients was not detectable (< 10 nmol/ mg/18 h)

CaseNotHPOs:

CaseNotHPOFreeText:

GenotypingMethod: PCR amplification of cDNA and genomic coding regions of the α-L-iduronidase gene and direct sequencing

PreviouslyPublished: n/a

Variant: c.895G>T (p.Glu299Ter); c.252insertC

CAID: CA355962511; CA355945969

SupplementalData: n/a

Case#: Patient 57, 6 years old (age at report), male, Indian

DiseaseAssertion: MPS1-H

FamilyInfo: N/A

CasePresentingHPOs: Coarse facial features, hepatosplenomegaly, joint contractures, corneal clouding, hernia (HP:0000280, HP:0001433, HP:0002828, HP:0007957, HP:0100790)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 3.9% (Range of residual enzyme activity: 0.0%-4.8%)

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.895G>T (p.Glu200Ter)

Variant1ClinVarID: 987878

Variant1CAID: CA355962511

Variant2: c.1960T>A (p.Ter654Arg)

Variant2ClinVarID: N/A

Variant2CAID: CA355966128

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A