Term Name: neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities
Synonyms: NEDSFB
Definition: An autosomal recessive intellectual developmental disorder characterized by global developmental delay including delays in walking and speech development, with some having hypotonia and inability to walk unsupported and most being nonverbal, intellectual disability ranging from mild to severe, and behavioral features including aggression, hyperactivity, and autism that has_material_basis_in homozygous mutation in the NAV3 gene on chromosome 12q21.
Ontology: Human Disease [DOID:0070815]   ( DOID:0070815 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder