TWIST1-related craniosynostosis

Definition

Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene.

Also known as craniosynostosis 1, craniosynostosis type 1, Primary Craniosynostosis, TWIST1-related craniosynostosis — per MONDO

Also identified as

• DOID 0061010 per MONDO
• OMIM 123100 per MONDO
• SCTID 57219006 per MONDO
• UMLS C4551902 per MONDO