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

Uniprot Description A disorder characterized by craniofacial abnormalities, postnatal growth deficiency, broad thumbs, broad big toes, mental retardation and a propensity for development of malignancies. Some individuals with RSTS2 have less severe mental impairment, more severe microcephaly, and a greater degree of changes in facial bone structure than RSTS1 patients.