Case#: Patient No. 1 (Table 1), White race, male, 1.97 years old (age at time of gene therapy), 75 IQ score. 2.9 years since gene therapy, 2 years since latest visit.

DiseaseAssertion: MPS-IH

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: N/A

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: Yes

Variant1: c.603C>G

Variant1ClinVarID: 1323100

Variant1CAID: CA355961899

Variant2: c.603C>G (p.Y603X)

Variant2ClinVarID: 1323100

Variant2CAID: CA355961899

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A