| Metadata | |
|---|---|
| ID | DOID:0060379 |
| Name | acrofacial dysostosis |
| 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. https://rarediseases.info.nih.gov/diseases/498/nager-acrofacial-dysostosis |
| Parent Relationships |
is_a dysostosis |