1 Matching Annotations
  1. Last 7 days
  2. link.springer.com link.springer.com
    Obstructive sleep apnea and craniofacial appearance in MPS type I-Hurler children after hematopoietic stem cell transplantation
    1
    1. ClingenBaseline 26 Oct 2026
      4F41.23.3

      Case#:Patient Sample unique ID 2

      DiseaseAssertion:MPS type I-Hurler children

      FamilyInfo:None

      CasePresentingHPOs:None

      CaseHPOFreeText:None

      CaseNotHPOs:Obstructive sleep apnea, HP:0002870

      CaseNotHPOFreeText:None

      CaseEnzymeAssay:None

      CaseUrineGAGs: Tested but amounts not reported

      CaseERT:No

      CaseBMT:Hematopoietic stem cell transplantation

      Variant1:c.208C>T

      Variant1ClinVarID:11909

      Variant1CAID:CA204563

      Variant2:c.1413C>G

      Variant2ClinVarID:1094781

      Variant2CAID:CA417702021

      AdditionalVariants:None

      ParentalGenotype:None provided

      PreviouslyPublished:N/A

      inferred_gene_hgnc:7527 inferred_gene_source:CAID IDUA variant annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    link.springer.com/article/10.1007/s11325-019-01900-9