Some other examples of atypical presentation in infants of known Mendelian disorders include minicore myopathy with external ophthalmoplegia, which is instantiated by an 8‐month‐old girl harboring RYR1 (MIM 180901) mutations, who shows poor intermittent feeding, diffuse muscle weakness, and a CHD7 (MIM 608892) mutation presenting only a facial asymmetry without heart defect, extremity abnormalities, and genital hypoplasia, such as identified in a 20‐day neonate. Here, RYR1 is linked to External ophthalmoplegia.