Case#: Pt4, Male, 9 months (diagnosis), 9 months (onset)

DiseaseAssertion: Hurler Syndrome

FamilyInfo: N/A Pedigree (Figure 4Pt4)

CasePresentingHPOs: HP:0000280, HP:0000365, HP:0100814, (Coarse face, Hearing Loss, Dermal melanocytosis)

CaseHPOFreeText: Spinal Deformation, Inguinal or Umbilical hernia

CaseNotHPOs: HP:0007957, HP:0001387, HP:0001654, HP:0001433, (Cornea clouding, Joint stiffness, Valvular heart disease, Hepatosplenomegaly)

CaseNotHPOFreeText: Long bone deformation

CaseEnzymeAssay: α-L-iduronidase 0.01 (leukocytes, normal 15.9–41.8 nmol/mg prot/h)

CaseUrineGAGs: Urine glycosaminoglycans 1106.4 (mg/g creatinine) {10.7-112}

CaseERT: N/A

CaseBMT: N/A

GenotypingMethod: Not Provided.

Variant1: c.1862G>C

Variant1ClinVarID: 1038439

Variant1CAID: CA355965939

Variant2: c.1862G>C

Variant2ClinVarID: 1038439

Variant2CAID: CA355965939

AdditionalVariants: N/A

ParentalGenotype: Both parents are heterozygous for c.1862G>C variant (figure 4 Pt 4)

PreviouslyPublished: N/A