TCF12-related craniosynostosis

Definition

Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene.

Also known as craniosynostosis 3, craniosynostosis caused by mutation in TCF12, craniosynostosis type 3, TCF12 craniosynostosis, TCF12-related craniosynostosis — per MONDO

Also identified as

• DOID 0061011 per MONDO
• OMIM 615314 per MONDO
• Orphanet 672979 per MONDO
• UMLS C3715051 per MONDO