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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I
    1
    1. ClingenBaseline 21 Oct 2026
      Patient 1

      Case#: Patient 1, male, 1 year old (age at diagnosis), 2 years old (age when deceased - due to a severe respiratory infection)

      DiseaseAssertion: MPS I-H

      FamilyInfo: Parents had a consanguineous marriage

      CasePresentingHPOs: Coarse facial features, corneal clouding, hepatosplenomegaly, skeletal dysplasia, global developmental delay (HP:0000280, HP:0007957, HP:0001433, HP:0002652, HP:0001263)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.252insC (current nomenclature: c.252dup)

      Variant1ClinVarID: N/A

      Variant1CAID: CA3060586149

      Variant2: c.252insC (current nomenclature: c.252dup)

      Variant2ClinVarID: N/A

      Variant2CAID: CA3060586149

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 CAID:CA3060586149 inferred_gene_hgnc:5391 inferred_gene_source:Gene_Name IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC3042362/