1 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan
    1
    1. ClingenBaseline 24 Oct 2026
      33

      Patient33: Female, 24 years report, 3 year onset

      CasePresentingHPOs: HP:0001324 (Muscle weakness)

      HPOsFreeText: GAA activity 9.6% from leukocyte

      CaseNotHPOs: HP:0002098, HP:0002240, HP:0001640 (Respiratory distress, Hepatomegaly, Cardiomegaly)

      NotHPOsFreeText: No wheelchair needed, Respiratory Assistance not needed

      CaseAddInfo: LOPD

      Individual CaseInfo ClinVarID:370124 ClinVarID:189065 inferred_gene_hgnc:12582 inferred_gene_source:ClinVar GAA variant
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5671405/