Other reported associations, such as hypertrophic cardiomyopathy with RAF1 mutations and ectodermal anomalies with HRAS mutations (Costello syndrome), were also partially recapitulated in our cohort, further validating established phenotypic correlations (Pandit et al., 2007; Kerr et al., 2006). The gene discussed is RAF1; the disease is hypertrophic cardiomyopathy.