Research New study links the EHMT2 gene to Kleefstra syndrome Katerina Tzimourta, July 9, 2026August 21, 2026 An international research team has linked variants of the EHMT2 gene to a rare neurodevelopmental disorder that shares significant similarities with Kleefstra syndrome. The work, which was published in Nature Communications on July 1, 2026, describes...
Research Study Links Skill Loss in Kleefstra Syndrome to Astrocytes and Investigates Response to Olanzapine Katerina Tzimourta, June 30, 2026August 21, 2026 A new study is examining one of the most concerning possibilities for some families living with Kleefstra syndrome: the loss of already acquired skills (developmental regression). This refers to a decline in functions that the individual had previously acquired,...
Research The first molecularly confirmed diagnosis of Kleefstra syndrome in Rwanda Katerina Tzimourta, April 22, 2026August 21, 2026 A 15-month-old child with developmental delay and hypotonia becomes the first person in Rwanda in whom Kleefstra syndrome is molecularly confirmed. By itself, an isolated case does not change what we know about the natural...
Research What Do We Now Know About the Early Developmental Milestones in Kleefstra Syndrome? A New Study of 100 People Katerina Tzimourta, March 13, 2026August 21, 2026 When does a child with Kleefstra syndrome typically start to sit? When do they take their first independent steps? When might the first words appear? These are questions that concern almost every family after a diagnosis,…
Research The first international clinical guideline for Kleefstra syndrome Katerina Tzimourta, February 12, 2026August 20, 2026 For families living with Kleefstra syndrome, a frequent problem is not only the complexity of the condition, but also the absence of a common care plan. Different doctors may know different sides of…
Research New study from China broadens the genetic picture of Kleefstra syndrome Katerina Tzimourta, December 12, 2025August 21, 2026 A major new study from mainland China adds important information on the genetic and clinical diversity of Kleefstra Syndrome and highlights a particularly important issue for families, parental mosaicism. The paper with...