/neurodevelopmental disorder with severe motor impairment and absent language

neurodevelopmental disorder with severe motor impairment and absent language

Rare Disease

MONDO:0060622

Also Known As

DHX30-related complex neurodevelopmental disorderneurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndromeneurodevelopmental disorder with severe motor impairment and absent languageNEDMIAL

Definition

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