Our interpretation of data from this family is therefore that while both girls have nemaline myopathy, the younger sibling has a more complex “blended” phenotype due to additional biallelic variants in LZTR1. Consistent with this hypothesis, we note that features specific to the younger sibling include hypertelorism, pointed chin, webbed neck, a broad chest, pectus excavatum, mitral‐valve abnormalities and abnormal nuchal translucency scan results during pregnancy. Here, LZTR1 is linked to nemaline myopathy.