This website provides information on KMT2E-related neurodevelopmental disorder (KMT2E-NDD; also known as O'Donnell-Luria-Rodan (ODLURO) syndrome),  including its clinical features, molecular genetics, medical management, and research efforts.

KMT2E-NDD results from pathogenic variants in the KMT2E gene and is characterised by global developmental delay, variable intellectual disability (typically mild to moderate), and hypotonia. However, individuals with a pathogenic variant in KMT2E may not have all these features.

This website was created to share and collect information about the clinical and molecular aspects, medical treatment, and research studies for KMT2E-NDD, which will help increase understanding of this condition and improve the care of individuals with this disorder.

Anne O'Donnell Luria, MD, PhD, Boston Children’s Hospital; Broad Institute of MIT and Harvard, Boston, MA, USA,;

Emily Groopman, MD, PhD, Children’s National Hospital, Washington, DC, USA,

Lynn Pais, MSc, Boston Children’s Hospital; Broad Institute of MIT and Harvard, Boston, MA, USA,

Terms & Conditions

Read More

Search Gene sites

Read More

Publications & News

Read More