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