Harel et al. found a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant in five unrelated individuals who displayed neurological phenotypes, including global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy [41]. The gene discussed is ATAD3A; the disease is Leber hereditary optic neuropathy.