In a recent article, Peralta et al. reported about 4 siblings from consanguineous parents with neonatal cerebellar hypoplasia, seizures, axial hypotonia, hypertrophic cardiomyopathy, hepatomegaly, congenital cataract, and facial dysmorphism due to the novel, homozygous missense variant c.1217T>G (p.Leu406Arg) in ATAD3A [1]. This evidence concerns the gene ATAD3A and hypertrophic cardiomyopathy.