|OBO ID: DOID:0060379|
|Term Name:||acrofacial dysostosis||Search Ontology:|
|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|
|Ontology:||Human Disease (DOID:0060379)|
OTHER acrofacial dysostosis PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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