Neurodevelopmental disorder with severe motor impairment and absent language

A complex neurodevelopmental disorder caused by variation in DHX30. Individuals with variants in DHX30 have been found to have variable presentations including intellectual disability, delayed or absent speech development, delayed motor development, hypotonia, feeding difficulties, and ataxic gait or the inability to walk. Other phenotypic features commonly reported include sleep disorders, autistic features, seizures, and joint hypermobility

Also known as: DHX30-related complex neurodevelopmental disorder, neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome, neurodevelopmental disorder with severe motor impairment and absent language, NEDMIAL

1 clinical trial for this condition and its sub-types, 0 tagged with Neurodevelopmental disorder with severe motor impairment and absent language itself.