Open access
Oct 2026
Case report: Harel–Yoon syndrome (ATAD3A p.Arg528Trp) with relative cognitive preservation despite severe motor impairment
Harel–Yoon syndrome (HAYOS) is a rare neurometabolic disorder caused by pathogenic variants in the ATAD3A gene, a key regulator of mitochondrial dynamics and cellular homeostasis. Although a broad phenotypic spectrum has been described, the relationship between genotype and long-term functional outcomes remains...
Paula Nathalia Zamudio Soledad, Juan Sebastián Montoya, David Santiago Poveda-Rodriguez et al.
· Frontiers in Genetics · 0 citations