ATAD3A and Harel-Yoon syndrome: 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].