neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities

Term ID

DOID:0070815

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. (3)

References

• MIM:621182
• UMLS_CUI:C6012716

Ontology

Human Disease   ( DOID:0070815 )