Main clinical features
Neurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL, OMIM #617804) is a multisystem disorder characterized by developmental delay and learning difficulties, minimal or absent speech, muscular weakness, and unsteady and uncoordinated walking, or inability to walk.
Prevalence
So far, twelve unrelated individuals have been identified.
Inheritance
This disorder is caused by de novo missense mutations in the DHX30 gene (non-inherited, genetic alterations that are present for the first time in one family member).