Term Name: acrofrontofacionasal dysostosis 3
Synonyms:
Definition: An acrofrontofacionasal dysostosis that is characterized by multiple congenital anomalies and severely impaired psychomotor development and that has_material_basis_in mutation in the NBAS gene on chromosome 2p24.
Ontology: Human Disease [DOID:0051104]   ( DOID:0051104 )

Relationships
is a type of: acrofrontofacionasal dysostosis