Case#: Patient I, origin of patient is Germany/Italy

DiseaseAssertion: Hurler syndrome (H)

FamilyInfo: No family information stated in this paper

CasePresentingHPOs:

CaseHPOFreeText:

CaseNotHPOs:

CaseNotHPOFreeText:

CaseEnzymeAssay: 0 nmol/mghour IDUA enzyme activity in patient. Reference range of IDUA enzyme is 0.27 - 9.00 nmol/mghour. These results obtained from leucocyte

CaseUrineGAGs: Information not stated in this paper

CaseERT: Don't know

CaseBMT: Don't know

Variant1: c.973‐7C>G

Variant1ClinVarID:

Variant1CAID: CA2586965950

Variant2: Not identified in this study

Variant2ClinVarID: N/A

Variant2CAID: N/A

AdditionalVariants: No additional variants mentioned

ParentalGenotype: No parental information provided

PreviouslyPublished: States that this variant is reported in this paper for the first time, therefore I do not believe the patient has been previously published