Case#: Patient 2, Female, 5 years (report), deceased

DiseaseAssertion: Hurler Syndrome

FamilyInfo: N/A

CasePresentingHPOs: HP:0003593, HP:0001249, HP:0001510 (Infantile Onset, Mental Retardation (Severe), Growth Retardation)

CaseHPOFreeText: Organomegaly (Severe), Bone Involvement

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 0 Leukocyte IDUA Activity μKat/Kg Protein

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

GenotypingMethod: Not Provided

Variant1: c.1650+1G>T

Variant1ClinVarID: 1323092

Variant1CAID: CA355965141

Variant2: c.1650+1G>T

Variant2ClinVarID: 1323092

Variant2CAID: CA355965141

AdditionalVariants: N/A

ParentalGenotype: Both parents had the c.1650 + 1G > T variant on Allele 1, but were normal on Allele 2

PreviouslyPublished: N/A

Case#: Patient 3, Male, 3 years (report), deceased

DiseaseAssertion: Hurler Syndrome

FamilyInfo: N/A

CasePresentingHPOs: HP:0003593, HP:0001249 (Infantile Onset, Mental Retardation (Severe))

CaseHPOFreeText: Organomegaly (Severe), Bone Involvement

CaseNotHPOs: HP:0001510 (Growth Retaradtion)

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 0.044 Leukocyte IDUA Activity μKat/Kg Protein

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

GenotypingMethod: Not Provided

Variant1: c.1650+1G>T

Variant1ClinVarID: 1323092

Variant1CAID: CA355965141

Variant2: p.A75T

Variant2ClinVarID: 222993

Variant2CAID: CA356994

AdditionalVariants: N/A

ParentalGenotype: The mother carries the c.1650 + 1G > T variant on Allele 1, and the father carries the p.A75T variant on Allele 1, but both were normal on Allele 2

PreviouslyPublished: N/A

Case#: Patient 4, Male, 2 years (report),

DiseaseAssertion: Hurler Syndrome

FamilyInfo: N/A

CasePresentingHPOs: HP:0003593 (Infantile Onset)

CaseHPOFreeText: Organomegaly (Severe), Bone Involvement

CaseNotHPOs: HP:0001249, HP:0001510 (Mental Retardation, Growth Retardation)

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 0 Leukocyte IDUA Activity μKat/Kg Protein

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

GenotypingMethod: Not Provided

Variant1: c.1650+1G>T

Variant1ClinVarID: 1323092

Variant1CAID: CA355965141

Variant2: p.R555H

Variant2ClinVarID: 2151983

Variant2CAID: CA2802347

AdditionalVariants: N/A

ParentalGenotype: The mother carried the c.1650 + 1G > T variant on Allele 1 and the father carried the p.R555H variant on allele 1, but both were normal on Allele 2

PreviouslyPublished: N/A

Case#: Patient 1, Male, 3 years (report),

DiseaseAssertion: Hurler Syndrome

FamilyInfo: N/A

CasePresentingHPOs: HP:0003593, HP:0001249, HP:0001510 (Infantile Onset, Mental Retardation (Severe), Growth Retardation)

CaseHPOFreeText: Organomegaly (Severe), Bone Involvement

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 0 Leukocyte IDUA Activity μKat/Kg Protein

CaseUrineGAGs: N/A

CaseERT: N/A

**CaseBMT: ** N/A

GenotypingMethod: Not Provided

Variant1: c.1650+1G>T

Variant1ClinVarID: 1323092

Variant1CAID: CA355965141

Variant2: c.1650+1G>T

Variant2ClinVarID: 1323092

Variant2CAID: CA355965141

** AdditionalVariants:** N/A

ParentalGenotype: Both parents had the c.1650 + 1G > T variant on Allele 1, but were normal on Allele 2

PreviouslyPublished: N/A