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    Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy
    1
    1. ClingenBaseline 25 Oct 2026
      21/F

      Patient 21: Female

      CasePresentingHPOs: HP:0004887, HP:0011471, HP:0002546, HP:0000365, HP:0001371, HP:0100845

      HPOsFreeText: CRIM positive, infusion associated reaction, tracheostomy, able to sit independently, heart normalization

      CaseNotHPOs:

      CaseAddInfo: variants in trans, symptom onset at birth, diagnosis at 19 days, ERT at 1yo

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.3:c.930_932del

      CAID: CA913184760, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA913184760

      Variant2: NM_000152.4(GAA):c.1927G>A (p.Gly643Arg)

      ClinVar: 4023, https://www.ncbi.nlm.nih.gov/clinvar/variation/4023/

      gnomAD: 0.00002479, http://gnomad.broadinstitute.org/variant/17-78086713-G-A

      Individual CaseInfo Variant CA913184760 ClinVarID:4023 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    ojrd.biomedcentral.com/articles/10.1186/s13023-018-0771-0