Rubinstein-Taybi syndrome due to CREBBP mutations

MONDO:0008393

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, RSTS, Rubinstein syndrome

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