O'Donnell-Luria–Rodan syndrome

O'Donnell-Luria–Rodan syndrome is an ultra-rare genetic disorder caused by pathogenic variants of the KMT2E gene. The clinical features generally include developmental delay, intellectual disability, decreased muscle tone, sleep disturbances, syndromic autism and seizures. The syndrome occurs due to insufficient levels of an enzyme involved in neuronal gene expression and cell cycle regulation. The condition can occur spontaneously (de novo) or be inherited in an autosomal dominant manner.

Several genetic diseases share symptoms with O'Donnell-Luria–Rodan syndrome. The disease is diagnosed using genetic and genomic testing in suspected individuals with characteristic presentation. Approach to management is supportive—aimed at improving quality of life—and consists of early interventions, special education and anti-seizure medications. It was first delineated in 2019 and around 120 individuals have been diagnosed with the condition as of 2025.