1 Matching Annotations
  1. Oct 2026
  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 22 Oct 2026
      3F51.54.7

      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.606c>A

      Variant1ClinVarID:979011

      Variant1CAID:CA370987409

      Variant2:c.979G>C

      Variant2ClinVarID:167190

      Variant2CAID:CA234128

      AdditionalVariants:None

      ParentalGenotype:None provided

      PreviouslyPublished:N/A

      inferred_gene_hgnc:10263 inferred_gene_source:CAID IDUA variant annotation
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    link.springer.com/article/10.1007/s11325-019-01900-9