This website provides information on patients with mutations in the DHX30 gene, including clinical data, molecular data, management and research options.
Neurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL, OMIM #617804), which is caused by de novo missense mutations in the DHX30 gene, is a multisystem disorder characterized by global developmental delay, intellectual disability, minimal or absent speech development, muscular hypotonia, and ataxic gait or inability to walk.
It is of note that not all features are present in all individuals with DHX30 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 DHX30 gene.
Davor Lessel, MD, Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany, firstname.lastname@example.org