neurodevelopmental disorder with variable motor and speech impairment

An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, delayed or absent speech development, and

An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, delayed or absent speech development, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DHX30 gene on chromosome 3p21.

Signs and symptoms

• Hypotonia
• Intellectual disability
• Motor delay
• Delayed speech and language development
• Absent speech
• Feeding difficulties
• Autistic behavior
• Sleep disturbance
• Strabismus
• Inability to walk

Also known as: NEDMIAL