Intellectual disability, autosomal dominant 16

Definition

Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene.

Also known as autosomal dominant intellectual disability 16, COFFIN-SIRIS syndrome 4, Coffin-Siris syndrome caused by mutation in SMARCA4, CSS4, intellectual disability, autosomal dominant 16, intellectual disability, autosomal dominant type 16, mental retardation, autosomal dominant type 16, MRD16, SMARCA4 Coffin-Siris syndrome, SMARCA4-related BAFopathy — per MONDO

Also identified as

• DOID 0070046 per MONDO
• OMIM 614609 per MONDO
• UMLS C3553249 per MONDO