Figure 1 illustrates the gene (Figure 1A) and protein structures (Figures 1B,C) indicating the positions of C1QBP variants. Table 2 summarizes the relative frequency of symptoms associated with biallelic variants in C1QBP and the relates the Human Phenotype Ontology (HPO) terms in which C1QBP mutatins should be suspected when a patient presents with cardiomyopathy, especially left ventricular hypertrophy, cardiomegaly, exercise tolerance, ptosis and PEO. The gene discussed is C1QBP; the disease is left ventricular hypertrophy.