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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 23 Oct 2026
      5

      Case#: Patient 5 (see Table 2), 37 weeks, 5 days (Gestational age)

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: Inguinal hernia (HP:0000023)

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0.26 nmol x mg-1 × hr-1

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1205G>A (p.W402X)

      Variant1ClinVarID: 11908

      Variant1CAID: CA220498

      Variant2: c.46_57del (p.Ser16_Ala19del) (c.134del12)

      Variant2ClinVarID: 92643

      Variant2CAID: CA220509

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished c.134del12 is based on old numbering. The variant is referred to as "134del12" in older papers. The correct name is: NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:92643 ClinVarID:11908 CAID:CA220498 CAID:220509 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC3710214/