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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the alpha-L-iduronidase gene in Hurler-Scheie syndrome
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    1. ClingenBaseline 21 Oct 2026
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      Case#: Patient 1 (see Table 2), female, 18.6 years old (age at report), 5.9 years (years of treatment), 6 surgeries.

      DiseaseAssertion: MPS1-HS

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002176, HP:0002360 (Spinal cord compression, sleep abnormality)

      CaseHPOFreeText: Psychiatric problems

      CaseNotHPOs: HP:0000238 (Hydrocephalus)

      CaseNotHPOFreeText: Shunt Placement

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: Yes

      CaseBMT: N/A

      Variant1: c.712T>A (p.L238Q) CDNA and protein change do not match. Known variant p.L238Q has a CDNA change of c.713T>A.

      Variant1ClinVarID: 265418

      Variant1CAID: CA2802065

      Variant2: c.63delC (p.P22Rfs*86) Known HGVS nomenclature is c.65del as there is a run of 5 C's.

      Variant2ClinVarID: 929238

      Variant2CAID: CA437911597

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:265418 CAID:CA2802065 ClinVarID:929238 CAID:CA437911597 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC3939822/