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