Human genes for acrofacial dysostosis Cincinnati type
Acrofacial dysostosis Cincinnati type [DOID:0060353]
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.
Synonyms: acrofacial dysostosis Cincinnati type, acrofacial dysostosis Cincinnati types, DOID:0060353