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