Rubinstein-Taybi syndrome due to CREBBP mutations

Definition

Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene.

Also known as CREBBP Rubinstein-Taybi syndrome, RSTS1, Rubinstein-Taybi syndrome 1, Rubinstein-Taybi syndrome caused by mutation in CREBBP, Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome type 1 — per MONDO

Also identified as

• NCIT C153290 per MONDO
• OMIM 180849 per MONDO
• Orphanet 353277 per MONDO
• UMLS C4551859 per MONDO