2 Matching Annotations
  1. Last 7 days
  2. www.sciencedirect.com www.sciencedirect.com
    First Three Years’ Experience of Mucopolysaccharidosis Type-I Newborn Screening in California
    1
    1. ClingenBaseline 23 Oct 2026
      Abnormal

      Case#: No additional case information provided.

      DiseaseAssertion: Not specified

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: Abnormal

      CaseUrineGAGs: Normal

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.250G>A (p.G48S)

      Variant1ClinVarID: 726495

      Variant1CAID: CA2801152

      Variant2: c.757G>T (p.G253C)

      Variant2ClinVarID: 554213

      Variant2CAID: CA2802076

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:726495 CAID:CA2801152 ClinVarID:554213 CAID:CA2802076 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S0022347623005073
  3. 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 22 Oct 2026
      11

      Case#: Patient 11, female, 1 year and 2 months (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, extensive Mongolian spots, splenomegaly, umbilical hernia (HP:0007957, HP:0000256, HP:0000943, HP:0002240, HP:0001387,HP:0011369, HP:0001744, 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.757G>T (p.G253C)

      Variant1ClinVarID: 554213

      Variant1CAID: CA2802076

      Variant2: c.757G>T (p.G253C)

      Variant2ClinVarID: 554213

      Variant2CAID: CA2802076

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:554213 CAID:CA2802076 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/cge.12795