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#: One patient from Norway

DiseaseAssertion: MPS1-H

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: N/A

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: c.223G>C (p.A75T)

Variant1ClinVarID: 222993

Variant1CAID: CA356994

Variant2: c.1205G>A (p.W402X)

Variant2ClinVarID: 11908

Variant2CAID: CA220498

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A