This disease was identified as Harel Yoon syndrome in 2016. Dr Harel and Dr Yoon discovered the variations in the gene ATAD3A observed in children with a mitochondrial dysfunction. There are less than fifty cases in the world known today. These cases are mainly due to a de novo mutation: this disease can affect anyone.
The goal of this site is to set up and connect all families of patients affected by this disease, centralize all studies on the ATAD3A gene and in the near future fund research teams through an association.