Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Definition

Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene.

Also known as EP300 Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome caused by mutation in EP300, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome type 2 — per MONDO

Also identified as

• NCIT C153291 per MONDO
• OMIM 613684 per MONDO
• Orphanet 353284 per MONDO
• UMLS C3150941 per MONDO