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  1. Last 7 days
  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 21 Oct 2026
      6 CC, CFF, DM, HM, SM Hurler–Scheie No 4 years Male [c.223G>A] + [c.895G>T] [p.Ala75Thr] + [p.Glu299*] [2] + [7] Known 0(R*) No No

      Case#: Uttarilli Patient 6, male, 4yo at presentation

      DiseaseAssertion: MPS1, Hurler-Scheie

      FamilyInfo: non-consanguineous

      CasePresentingHPOs: HP:0007957, HP:0000280, HP:0000943, HP:0002240, HP:0001744

      CaseHPOFreeText: IDUA enzyme activity=0 (reference = 11–26 nmol/h/mg)

      CaseNotHPOs:

      CaseNotHPOFreeText:

      GenotypingMethod: PCR of all exons of IDUA and IDS genes and bidirectional sequencing

      PreviouslyPublished:

      Variant: [c.223G>A] [p.Ala75Thr]; [c.895G>T] [p.Glu299*]

      CAID: CA356994; CA355962511

      SupplementalData: n/a

      CaseInfo Individual CAID:CA356994 CAID:CA355962511 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
  3. academic.oup.com academic.oup.com
    Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients
    1
    1. ClingenBaseline 21 Oct 2026
      4 missense mutations

      Case#: One patient from Norway

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.223G>C (p.A75T)

      Variant1ClinVarID: 222993

      Variant1CAID: CA356994

      Variant2: c.1205G>A (p.W402X)

      Variant2ClinVarID: 11908

      Variant2CAID: CA220498

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:222993 CAID:CA356994 ClinVarID:11908 CAID:CA220498 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    academic.oup.com/hmg/article-abstract/3/6/861/594316