/Treacher Collins syndrome 3

Treacher Collins syndrome 3

Rare Disease

MONDO:0009558

Also Known As

POLR1C Treacher-Collins syndromeTreacher Collins syndrome 3Treacher Collins syndrome type 3Treacher-Collins syndrome caused by mutation in POLR1CTCS3TREACHER COLLINS syndrome 3mandibulofacial dysostosis, Treacher Collins type, autosomal recessive

Definition

Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene.

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Associated Genes

POLR1C ↗

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

External Resources

OMIM

OMIM:248390 ↗

GARD

GARD:9125 ↗

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