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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Extended genotype–phenotype spectrum of 17α-hydroxylase/17,20-lyase deficiency: a nine-case series featuring a novel mutation, suspected TART-like lesions, and multisystem involvement
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    1. ClingenBaseline 10 Nov 2026
      proband

      Case#1: Female

      DiseaseAssertion: Left ventricular noncompaction cardiomyopathy, congenital adrenal hyperplasia

      FamilyInfo: Clinical evaluation of proband’s parents, wife, 18 year old son, and 14 year old daughter were showed them as asymptomatic

      ParentalTesting: variants found in both mother and father

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Hypertension, Hypokalemia, disorders of sex development, delayed puberty

      CaseNotHPOs: N/A

      CaseNotHPOFreeText:Adrenal volume was normal

      CasePreviousTesting: Targeted gene panel for pathogenic variants in MYBPC3

      Genotyping Method: Whole exome Sequencing

      Variant: NM_000256.3 c.1000G>A, p.E334K

      ClinVar:177902

      CAID: CA009667

      gnomAD:chr11-47346297-C-T

      Case-Individual CAID: CA009667 inferred_gene_hgnc:7551 inferred_gene_source:CAID Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC13626915/