Baraitser-winter syndrome 2

Definition

Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene.

Also known as ACTG1 Baraitser-Winter cerebrofrontofacial syndrome, Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTG1, Baraitser-winter syndrome 2, Baraitser-Winter syndrome type 2 — per MONDO

Also identified as

• DOID 0081113 per MONDO
• OMIM 614583 per MONDO
• UMLS C3281235 per MONDO