| Term Name: | acrofacial dysostosis |
|---|---|
| Synonyms: | |
| Definition: | A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene. |
| Ontology: | Human Disease [DOID:0060379] ( DOID:0060379 ) |