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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease
    1
    1. ClingenBaseline 21 Oct 2026
      Hurler disease

      Case#: Patient 50, 2 years old (age at report), female, Indian

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: Coarse facial features, hepatosplenomegaly, corneal clouding, recurrent infections, hernia (HP:0000280, HP:0001433, HP:0007957, HP:0002719, HP:0100790)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 2.2% (Range of residual enzyme activity: 0.0%-4.8%)

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.238G>T (p.Val80Phe)

      Variant1ClinVarID: N/A

      Variant1CAID: CA355946451

      Variant2: c.784delC (p.His262Thrfs*55)

      Variant2ClinVarID: 956890

      Variant2CAID: CA2802083

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo CAID:CA355946451 ClinVarID:956890 CAID:CA2802083 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/33301762/