Primary Coenzyme Q deficiencies: A literature review and online platform of clinical features to uncover genotype-phenotype correlations

Primary Coenzyme Q (CoQ) deficiencies are clinically heterogeneous conditions and lack clear genotype-phenotype correlations, complicating diagnosis prognostic assessment. Here we present a compilation of all the symptoms patients with primary CoQ deficiency described in literature so far analyse most common clinical manifestations associated pathogenic variants identified different COQ genes. In addition, new associations between age onset variants, which could help to better guided treatment. To make these results useable for clinicians, created an online platform (https://coenzymeQbiology.github.io/clinic-CoQ-deficiency) about that will be periodically updated incorporate information published literature. Since is rare disease, available data still limited, but as added over time, this tool become key resource more efficient pathology.