Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

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, RSTS2, Rubinstein-Taybi syndrome 2

1 clinical trial for this condition and its sub-types.