Rubinstein-Taybi Syndrome 2 (RSTS2)

Rubinstein-Taybi Syndrome 2, also known as rubinstein-taybi syndrome due to ep300 haploinsufficiency, is related to menke-hennekam syndrome 2 and chromosome 16p13.3 deletion syndrome, proximal. An important gene associated with Rubinstein-Taybi Syndrome 2 is EP300 (E1A Binding Protein P300). Affiliated tissues include bone and eye, and related phenotypes are high palate and hypertelorism