Coffin-Siris syndrome 5

Definition

Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene.

Also known as Coffin-Siris syndrome 5, Coffin-Siris syndrome caused by mutation in SMARCE1, Coffin-Siris syndrome type 5, SMARCE1 Coffin-Siris syndrome — per MONDO

Also identified as

• DOID 0112368 per MONDO
• OMIM 616938 per MONDO
• UMLS C4310788 per MONDO