Baraitser-Winter syndrome 1

Definition

Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene.

Also known as ACTB Baraitser-Winter cerebrofrontofacial syndrome, ACTB-related BAFopathy, Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTB, Baraitser-Winter syndrome 1, Baraitser-Winter syndrome type 1, cerebrofrontofacial syndrome, Fryns-Aftimos syndrome — per MONDO

Also identified as

• DOID 0081112 per MONDO
• OMIM 243310 per MONDO
• UMLS C1855722 per MONDO