This website provides information on patients with mutations in the KDM5A gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the KDM5A gene is a multisystem disorder characterized by autism spectrum disorder, intellectual disability, developmental delay, and absent or delayed speech.
Not all individuals with a mutation in the KDM5A gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the KDM5A gene.
Maria Chahrour, PhD, University of Texas Southwestern Medical Center, Dallas, Texas, USA, maria.chahrour@utsouthwestern.edu