2
Case#: Patient No. 2 (Table 1), Arabic Druze ethnic group, male, 1.15 years old (age at time of gene therapy), 100 IQ score, 2.40 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.192C>A (p.Y64X)
Variant1ClinVarID: 11914
Variant1CAID: CA256113
Variant2: c.192C>A (p.Y64X)
Variant2ClinVarID: 11914
Variant2CAID: CA256113
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A