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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms
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    1. ClingenBaseline 25 Oct 2026
      11

      Case#: Patient 11 (see Table 1), 6 years old (age at report), 1 year old (age at onset), female, height of 120 cm, weight of 20 kg, located in Tunis: Industrial region

      DiseaseAssertion: MPS1 - mild

      FamilyInfo: Parents were 2nd cousins (see Table 2), aged 37 yrs (M) and 44 yrs (F).

      CasePresentingHPOs: HP:0004322, HP:0001999, HP:0030799, HP:0001537 (Short stature, facial dysmorphia, scaphocephaly, umbilical hernia)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0.09 μKat/kg

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1733T>A (p.L578Q)

      Variant1ClinVarID: N/A

      Variant1CAID: CA355965319

      Variant2: c.1598C>G (p.P533R)

      Variant2ClinVarID: 11910

      Variant2CAID: CA256112

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11910 CAID:CA256112 CAID:CA355965319 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC3110106/