Primary coenzyme Q (CoQ) deficiencies are clinically heterogeneous and currently lack a clear genotype-phenotype correlation. As a result, most cases are not diagnosed or are diagnosed too late. To help guide diagnosis and early treatment, here we analyse the associations between clinical manifestations (symptoms) and the different COQ genes that are reported in the literature (Alcázar-Fabra et al., FRBM, 2021). Click on the image and have a look!