/acrofacial dysostosis Cincinnati type

acrofacial dysostosis Cincinnati type

Rare Disease

MONDO:0014651

Also Known As

POLR1A acrofacial dysostosisacrofacial dysostosis caused by mutation in POLR1AAFDCINacrofacial dysostosis, Cincinnati type

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

Comprehensive, easy-to-understand information about this condition

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Gene data from MyGene.info • Click to view on NCBI Gene

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