Term Name: neurodevelopmental disorder with variable motor and speech impairment
Synonyms: NEDMIAL
Definition: 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.
Ontology: Human Disease [DOID:0070756]   ( DOID:0070756 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder