acrofacial dysostosis Cincinnati type

Term ID

DOID:0060353

Synonyms

Definition

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. https://www.ncbi.nlm.nih.gov/pubmed/25913037

References

• OMIM:616462

Ontology

Human Disease   ( DOID:0060353 )