Case#: Pt3, Male, 38 months (diagnosis), 4 months (onset)

DiseaseAssertion: Hurler Syndrome

FamilyInfo: N/A Pedigree (Figure 4Pt3)

CasePresentingHPOs: HP:0000280, HP:0007957, HP:0001387, HP:0001654, HP:0100814, (Coarse face, Cornea clouding, Joint stiffness, Valvular heart disease, Dermal melanocytosis)

CaseHPOFreeText: Spinal Deformation, Inguinal or Umbilical hernia

CaseNotHPOs: HP:0001433 (Hepatosplenomegaly)

CaseNotHPOFreeText: Long bone deformation

CaseEnzymeAssay: α-L-iduronidase 0.13 (dried blood spots, normal >1.32 µM/h)

CaseUrineGAGs: Urine heparan sulfate 8.18 (mg/mmol creatinine) {<0.76}

CaseERT: N/A

CaseBMT: N/A

GenotypingMethod: Not Provided.

Variant1: c.1190-10C>A

Variant1ClinVarID: 950888

Variant1CAID: CA1139658405

Variant2: c.1046A>G

Variant2ClinVarID: 950889

Variant2CAID: CA2802173

AdditionalVariants: N/A

ParentalGenotype: Both parents are homozygous for not having the c.1190-10C>A and c.1046A>G variants (figure 4 Pt3)

PreviouslyPublished: N/A

Case#: Pt5, Female, 54 months (diagnosis), 24 months (onset)

DiseaseAssertion: Hurler Syndrome

FamilyInfo: N/A Pedigree (Figure 4Pt5)

CasePresentingHPOs: HP:0000280, HP:0007957, HP:0001387, HP:0000365, HP:0100814, (Coarse face, Cornea clouding, Joint stiffness, Hearing Loss, Dermal melanocytosis)

CaseHPOFreeText: N/A

CaseNotHPOs: HP:0001654, HP:0001433 (Valvular heart disease, Hepatosplenomegaly)

CaseNotHPOFreeText: Long bone deformation, Spinal Deformation, Inguinal or Umbilical hernia

CaseEnzymeAssay: α-L-iduronidase 0.43 (leukocytes, normal 15.9–41.8 nmol/mg prot/h)

CaseUrineGAGs: Urine glycosaminoglycans 508.8 (mg/g creatinine) {10.7-112}

CaseERT: N/A

CaseBMT: N/A

GenotypingMethod: Not Provided.

Variant1: c.1190-10C>A

Variant1ClinVarID: 950888

Variant1CAID: CA1139658405

Variant2: c.1046A>G

Variant2ClinVarID: 950889

Variant2CAID: CA2802173

AdditionalVariants: N/A

ParentalGenotype: Female parent is heterozygous for c.1190-10C>A variant; Male Parent is heterozygous for c.1046A>G variant (figure 4 Pt5)

PreviouslyPublished: N/A

Case#: Pt2, Male, 15 months (diagnosis), 15 months (onset)

DiseaseAssertion: Hurler Syndrome

FamilyInfo: N/A Pedigree (Figure 4Pt2)

CasePresentingHPOs: HP:0000280, HP:0000365, HP:0001654, HP:0100814, (Coarse face, Hearing Loss, Valvular heart disease, Dermal melanocytosis)

CaseHPOFreeText: N/A

CaseNotHPOs: HP:0007957, HP:0001387, HP:0001433, (Cornea clouding, Joint stiffness, Hepatosplenomegaly)

CaseNotHPOFreeText: Long bone deformation, Spinal deformation, Inguinal or Umbilical hernia

CaseEnzymeAssay: α-L-iduronidase 0.06 (dried blood spots, normal >1.32 µM/h)

CaseUrineGAGs: Urine heparan sulfate 55.44 (mg/mmol creatinine) {0.65-3.51}

CaseERT: N/A

CaseBMT: N/A

GenotypingMethod: Not Provided.

Variant1: c.1190-10C>A

Variant1ClinVarID: 950888

Variant1CAID: CA1139658405

Variant2: c.1190-10C>A

Variant2ClinVarID: 950888

Variant2CAID: CA1139658405

AdditionalVariants: N/A

ParentalGenotype: Both parents are homozygous for not having the c.1190-10C>A variant (figure 4 Pt 2)

PreviouslyPublished: N/A

Case#: Pt1, Male, 20 months (diagnosis), 20 months (onset)

DiseaseAssertion: Hurler Syndrome

FamilyInfo: N/A Pedigree (Figure 4Pt1)

CasePresentingHPOs: HP:0000280, HP:0007957, HP:0001654, HP:0100814, (Coarse face, Cornea clouding, Valvular heart disease, Dermal melanocytosis)

CaseHPOFreeText: N/A

CaseNotHPOs: HP:0001387, HP:0000365, HP:0001433, (Joint stiffness, Hearing loss, Hepatosplenomegaly)

CaseNotHPOFreeText: Long bone deformation, Spinal deformation, Inguinal or umbilical hernia

CaseEnzymeAssay: α-L-iduronidase 0.17 (dried blood spots, normal >1.32 µM/h)

CaseUrineGAGs: Urine heparan sulfate 8.26 (mg/mmol creatinine) {<0.67}

CaseERT: N/A

CaseBMT: N/A

GenotypingMethod: Not Provided.

Variant1: c.1190-10C>A

Variant1ClinVarID: 950888

Variant1CAID: CA1139658405

Variant2: c.1190-10C>A

Variant2ClinVarID: 950888

Variant2CAID: CA1139658405

AdditionalVariants: N/A

ParentalGenotype: Both parents are homozygous for not having the c.1190-10C>A variant (figure 4 Pt 1)

PreviouslyPublished: N/A