_:vb50938702 "An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11."^^ . _:vb50938702 . _:vb50938702 "url:https://www.ncbi.nlm.nih.gov/pubmed/25913037"^^ . _:vb50938702 . _:vb50938702 . _:vb50938702 . _:vb50938702 .