Case#:Patient Sample unique ID 29, Infant screened positive at birth (specimens with activity ≤15% of the DMA for enzyme activity and a CLIR screening algorithm result of indeterminate or MPS I)

DiseaseAssertion:None

FamilyInfo:None

CasePresentingHPOs:None

CaseHPOFreeText:None

CaseNotHPOs:None

CaseNotHPOFreeText: Normal examination at follow up after screening positive at birth (specimens with activity ≤15% of the DMA for enzyme activity and a CLIR screening algorithm result of indeterminate or MPS I)

CaseEnzymeAssay: IDUA activity 0.623 (7.5) umol/L/h (%DMA) during new born screening through dried blood spot (plasma) and 11.1 pmol/punch/h Confirmatory IDUA enzyme

CaseUrineGAGs: DS 3.1 g/mol creatinine and HS 2.4 g/mol creatinine (Normal)

CaseERT:No

CaseBMT:No

Variant1:heterozygous VUS: c.787A>T; p.R263W (Normal examination)

Variant1ClinVarID:2664494

Variant1CAID:CA411263334

Variant2: heterozygous PD: c.246C>G; p.H82Q

Variant2ClinVarID:92637

Variant2CAID:CA220506

AdditionalVariants:None

ParentalGenotype:None provided

PreviouslyPublished:N/A