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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
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    1. ClingenBaseline 22 Oct 2026
      24

      Case#: Patient 24, female, 15 months (age at presentation).

      DiseaseAssertion: MPS1-H

      FamilyInfo: Consanguinity in the family present for this patient.

      CasePresentingHPOs: Coarse facial features, global developmental delay, joint contractures (HP:0000256, HP:0001263, HP:0100790)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1759C>T (p.Q587X)

      Variant1ClinVarID: 2630132

      Variant1CAID: CA355965402

      Variant2: c.1759C>T (p.Q587X)

      Variant2ClinVarID: 2630132

      Variant2CAID: CA355965402

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:2630132 CAID:CA355965402 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