Acrofacial dysostosis Cincinnati type

Definition

Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene.

Also known as acrofacial dysostosis caused by mutation in POLR1A, POLR1A acrofacial dysostosis — per MONDO

Also identified as

• DOID 0060353 per MONDO
• OMIM 616462 per MONDO
• UMLS C4225317 per MONDO