Treacher Collins Syndrome 3 (TCS3)

Treacher Collins Syndrome 3, also known as mandibulofacial dysostosis, treacher collins type, autosomal recessive, is related to treacher collins syndrome 1 and cleft palate, isolated. An important gene associated with Treacher Collins Syndrome 3 is POLR1C (RNA Polymerase I And III Subunit C), and among its related pathways/superpathways are Pyrimidine metabolism and RNA Polymerase I Transcription Termination. Affiliated tissues include bone, and related phenotypes are microtia and micrognathia