"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."^^ . "elvira"^^ . "DOID:0060379"^^ . . "2015-09-21T15:24:28Z"^^ . "acrofacial dysostosis"^^ . "disease_ontology"^^ . . .