ECHS1 and Right ventricular cardiomyopathy: Further evaluations showed that the ECHS1 gene is related with right ventricular cardiomyopathy (HP:0011663) (z-score = 2.04008448), cardiovascular calcification (HP:0011915) (z-score = 2.05269516), sudden death (HP:0001699) (z-score = 2.05545235), progressive muscle weakness (HP:0003323) (z-score = 1.83832924), ragged-red muscle fibers (HP:0003200) (z-score = 2.36338320), and increased muscle lipid content (HP:0009058) (z-score = 2.59355360).