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    Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand
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    1. ClingenBaseline 22 Oct 2026
      10

      Case#: Patient 10, Gender N/A, Onset at 1-2 months. Death at 10 months, Southeast Asian

      DiseaseAssertion:Pompe disease

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0001639. HP:0005165, HP:0002100

      (Dyspnea, Shortened PR interval, Recurrent aspiration pneumonia)

      CaseHPOFreeText: BVH, SDD

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting GAA enzyme activity is not available.

      PCR of all exons was performed and subsequently subjected to capillary Sanger sequencing in both directions

      Variant: NM_000152.5(GAA):c.876C>G (p.Tyr292Ter)

      ClinVar: 637958

      CAID: CA500127534

      gnomAD: N/A

      ParentalGenotype: Both parents are carriers of the variant c.876C>G (p.Tyr292Ter)

      PreviouslyPublished: N/A

      CaseInfo Individual Zygosity:Homozygous ParentalTest:FullPhase InheritancePattern:AutosomalRecessive UnregisteredVariant ClinVarID: 637958 DiseaseEntity:PompeDisease CAid:CA500127534 inferred_gene_hgnc:1100 inferred_gene_source:CAID GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC6737665/