has material basis in germline mutation in DHX30 neurodevelopmental disorder with severe motor impairment and absent language https://github.com/monarch-initiative/mondo/issues/3680 https://www.malacards.org/card/neurodevelopmental_disorder_with_severe_motor_impairment_and_absent_language https://www.malacards.org/card/neurodevelopmental_disorder_with_variable_motor_and_language_impairment DHX30-related complex neurodevelopmental disorder Orphanet:647788 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 UMLS:C4540496 NEDMIAL neurodevelopmental disorder with severe motor impairment and absent language OMIM:617804 MEDGEN:1622162 neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome MONDO:0060622 https://github.com/monarch-initiative/mondo/issues/8265 GARD:0013608 complex neurodevelopmental disorder Mendelian neurodevelopmental disorder