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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome
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    1. ClingenBaseline 21 Oct 2026
      Here, we report an international multicenter cohort of 16 patients (of whom 7 are newly diagnosed) with biallelic pathogenic variants in ACO2 gene.

      Sharkia Proband A-3, onset at 5 weeks old, 5yo at report, Caucasian, American, male. Patient A3 has

      Variant: c.590A>G and c.172C>T

      CaseHPO: HP:0001252, HP:0001251, HP:0001250, HP:0002120, HP:0001272, HP:0000648, HP:0000512, HP:0012736, HP:0001508, HP:0000252, HP:0030890

      CaseInfo Individual ClinVarID:441075 inferred_gene_hgnc:21701 inferred_gene_source:ClinVar UNC Biocuration Core
    2. ClingenBaseline 21 Oct 2026
      Here, we report an international multicenter cohort of 16 patients (of whom 7 are newly diagnosed) with biallelic pathogenic variants in ACO2 gene.

      Sharkia Proband A-3, onset at 5 weeks old, 5yo at report, Caucasian, American, male. Patient A3 has

      Variant: c.590A>G and c.172C>T

      CaseHPO: HP:0001252, HP:0001251, HP:0001250, HP:0002120, HP:0001272, HP:0000648, HP:0000512, HP:0012736, HP:0001508, HP:0000252, HP:0030890

      CaseInfo Individual ClinVarID:441075 inferred_gene_hgnc:21701 inferred_gene_source:ClinVar UNC Biocuration Core
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    pubmed.ncbi.nlm.nih.gov/30689204/