What is AGO2/Leskres syndrome?
AGO2/Leskres (Lessel-Kreienkamp) syndrome is a rare neurodevelopmental disorder characterized by delayed motor development, seizures, problems speaking and understanding, and cognitive impairment.
It is associated with a mutation in the gene AGO2. If you are a parent of an affected child, please know that YOU DID NOTHING WRONG! It's that important, we write it in capitals. New mutations happen naturally, and in the good cases this is how we evolve as a human species.
The syndrome was discovered by Dr. Lessel and Prof. Kreienkamp and first described in November 2020. It was named "Lessel-Kreienkamp syndrome" in early 2021 (OMIM).