Term Name
intellectual disability, autosomal dominant 15
External Reference
Synonyms
SMARCB1-related BAFopathy, SMARCB1 Coffin-Siris syndrome, autosomal dominant mental retardation 15, intellectual disability, autosomal dominant type 15, autosomal dominant intellectual disability 15, COFFIN-SIRIS syndrome 3, mental retardation, autosomal dominant type 15, intellectual disability, autosomal dominant 15, MRD15, CSS3, Coffin-Siris syndrome caused by mutation in SMARCB1
Definition
Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene.