Visualize Submit Comment
Metadata
ID DOID:0060353
Name acrofacial dysostosis Cincinnati type
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
Xrefs

OMIM:616462

Parent Relationships

is_a acrofacial dysostosis

is_a autosomal dominant disease

Add an item to the term tracker