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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life
    1
    1. ClingenBaseline 21 Oct 2026
      15

      Case#: Patient 15 (see Table 2), 38 weeks, 1 day (Gestational age)

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: Inguinal hernia (HP:0000023)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0.23 nmol x mg-1 × hr-1

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.494-1G > A

      Variant1ClinVarID: 557942

      Variant1CAID: CA355961634

      Variant2: c.494-1G > A

      Variant2ClinVarID: 557942

      Variant2CAID: CA355961634

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:557942 CAID:CA355961634 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC3710214/