Intellectual disability, autosomal dominant 15

Definition

Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene.

Also known as autosomal dominant intellectual disability 15, COFFIN-SIRIS syndrome 3, Coffin-Siris syndrome caused by mutation in SMARCB1, CSS3, intellectual disability, autosomal dominant 15, intellectual disability, autosomal dominant type 15, mental retardation, autosomal dominant type 15, MRD15, SMARCB1 Coffin-Siris syndrome, SMARCB1-related BAFopathy — per MONDO

Also identified as

• DOID 0070045 per MONDO
• OMIM 614608 per MONDO
• UMLS C3553248 per MONDO