Tawfik et al. identified a homozygous mutation, c.624_644del (p.Glu209_Glu215del), in the ATAD3A gene in an 11-year-old male with Harel-Yoon syndrome, accompanied by novel features such as fatigable ptosis, facial weakness, progressive bulbar palsy, and obsessive–compulsive disorder [44]. The gene discussed is ATAD3A; the disease is Harel-Yoon syndrome.