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    Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand
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    1. ClingenBaseline 21 Oct 2026
      11

      Case#: Patient 11, Gender N/A, Onset at 3-4 months. Death when 1-2 years old, Southeast Asian

      DiseaseAssertion: Parents are

      FamilyInfo: Proband parents are consanguineous family

      CasePresentingHPOs: HP:0001252, HP:0002240 Muscular hypotonia, Hepatomegaly

      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.1895T>G (p.Leu632Arg)

      ClinVar: 637961

      CAID: CA401369835

      gnomAD: N/A

      ParentalGenotype: Both parents were carriers of the variant c.1895T>G (p.Leu632Arg)

      PreviouslyPublished:

      CaseInfo Individual Zygosity:Homozygous ParentalTest:FullPhase InheritancePattern:AutosomalRecessive UnregisteredVariant ClinVarID:637961 DiseaseEntity:PompeDisease CAID:** CA401369835 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC6737665/