| 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 ) |