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
MONDO:0100038
complex neurodevelopmental disorder
is_a
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
DHX30-related complex neurodevelopmental disorder
exact
NEDMIAL
related
neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome
exact
neurodevelopmental disorder with severe motor impairment and absent language
exact