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  2. ojrd.biomedcentral.com ojrd.biomedcentral.com
    Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease
    2
    1. ClingenBaseline 22 Oct 2026
      P8a

      Patient8: Female, 61yo

      CasePresentingHPOs: HP:0000822, HP:0003077

      HPOsFreeText: LOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 5yr follow-up MRI, 21yr disease duration, ERT lasted for 63mo

      CasePMIDs: PMID: 25614309

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.-32-13T>G

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4(GAA):c.1478C>T (p.Pro493Leu)

      ClinVar: 379593, https://www.ncbi.nlm.nih.gov/clinvar/variation/379593/

      gnomAD: 0.00001416, http://gnomad.broadinstitute.org/variant/17-78084566-C-T

      Individual CaseInfo Variant ClinVarID:4027 ClinVarID:379593 inferred_gene_hgnc:6842 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 22 Oct 2026
      P5a

      Patient5: Male, 52yo

      CasePresentingHPOs: HP:0003077, HP:0000822

      HPOsFreeText: LOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 15yr disease duration, ERT lasted for 63mo, 5yr follow-up MRI

      CasePMIDs: PMID: 25614309

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.-32-13T>G

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4(GAA):c.1478C>T (p.Pro493Leu)

      ClinVar: 379593, https://www.ncbi.nlm.nih.gov/clinvar/variation/379593/

      gnomAD: 0.00001416, http://gnomad.broadinstitute.org/variant/17-78084566-C-T

      Individual CaseInfo Variant ClinVarID:4027 ClinVarID:379593 inferred_gene_hgnc:6842 inferred_gene_source:ClinVar GAA variant
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    ojrd.biomedcentral.com/articles/10.1186/s13023-018-0794-6