Main clinical features
Neurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL, OMIM #617804), 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.
Prevalence
So far, twelve unrelated individuals have been identified.
Inheritance
Pathogenic DHX30 variants occurred de novo in all patients.