Treacher Collins syndrome 3

MONDO:0009558

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

Also known as: POLR1C Treacher-Collins syndrome, Treacher Collins syndrome 3, Treacher Collins syndrome type 3, Treacher-Collins syndrome caused by mutation in POLR1C, TCS3, TREACHER COLLINS syndrome 3, mandibulofacial dysostosis, Treacher Collins type, autosomal recessive

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