Al Madhoun et al. first identified an ATAD3A c.251T>C (p.Thr84Me) biallelic variant in a female with developmental delay and cerebellar atrophy (similar to Harel-Yoon syndrome without cardiomyopathy or optic atrophy) from consanguineous parents in 2019 [43]. Here, ATAD3A is linked to Leber hereditary optic neuropathy.