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  2. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II
    1
    1. ClingenBaseline 24 Oct 2026
      15

      Case#: Patient 15, female, 9 years (age at presentation).

      DiseaseAssertion: MPS1-H/S

      FamilyInfo: Consanguinity in the family present for this patient.

      CasePresentingHPOs: Corneal clouding, coarse facial features, dystosis multiplex, hepatomegaly, joint stiffness, umbilical hernia (HP:0007957, HP:0000256, HP:0000943, HP:0002240, HP:0001387, HP:0001537)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.971A>G (p.K324R)

      Variant1ClinVarID: N/A

      Variant1CAID: CA355962881

      Variant2: c.971A>G (p.K324R)

      Variant2ClinVarID: N/A

      Variant2CAID: CA355962881

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 CAID:CA355962881 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/cge.12795