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Treacher Collins syndrome 1 | RareConnect | RareConnect.io

/Treacher-Collins syndrome

/Treacher Collins syndrome 1

Treacher Collins syndrome 1

Rare Disease

MONDO:0007944

Also Known As

TCOF1 Treacher-Collins syndromeTreacher Collins syndrome type 1Treacher-Collins syndrome 1Treacher-Collins syndrome caused by mutation in TCOF1TCS1TREACHER COLLINS syndrome 1Treacher Collins syndromeTreacher Collins-Franceschetti syndromemandibulofacial dysostosis

Definition

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

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

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

External Resources

OMIM

OMIM:154500 ↗

Related Diseases

Treacher Collins syndrome 3

MONDO:0009558

Treacher Collins syndrome 2

MONDO:0013385

Treacher Collins syndrome 4

MONDO:0030067

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