Treacher Collins syndrome 1

Definition

Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene.

Also known as TCOF1 Treacher-Collins syndrome, Treacher Collins syndrome type 1, Treacher-Collins syndrome 1, Treacher-Collins syndrome caused by mutation in TCOF1 — per MONDO

Also identified as

• DOID 0080789 per MONDO
• OMIM 154500 per MONDO