Coffin-Siris syndrome 1

Definition

Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B gene.

Also known as ARID1B-related BAFopathy, COFFIN-SIRIS syndrome 1, CSS1, hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features, hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features, intellectual disability, autosomal dominant 12, mental retardation, autosomal dominant type 12, MRD12 — per MONDO

Also identified as

• DOID 0070042 per MONDO
• MESH C538391 per MONDO
• OMIM 135900 per MONDO
• OMIM 609943 per MONDO
• OMIM 614562 per MONDO
• UMLS C3281201 per MONDO