Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency is a rare genetic condition caused by a mutation in the EP300 gene. This mutation results in a reduction of the gene's normal function (haploinsufficiency) and underlies the clinical features seen in this condition. The syndrome is part of a group of disorders that share similarities with Rubinstein-Taybi syndrome, but in this case the cause is specifically linked to the EP300 gene. This condition is also known by several other names, including EP300 Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome type 2, and RSTS2. While this summary provides a general overview, detailed information on how the condition affects people is still limited. Ongoing research may further clarify its full spectrum and impact.

Information about symptoms is currently limited for this condition.

This condition is caused by a mutation in the EP300 gene. The mutation leads to haploinsufficiency, meaning that there is not enough normal EP300 protein produced. This genetic change is the basis for the disease features observed in people with this form of Rubinstein-Taybi syndrome.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.