Coffin-Siris syndrome 8

Definition

Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCC2 gene.

Also known as SMARCC2-related BAFopathy — per MONDO

Also identified as

• DOID 0112367 per MONDO
• OMIM 618362 per MONDO
• UMLS C5193054 per MONDO