/Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Rare Disease
MONDO:0013364
Also Known As
EP300 Rubinstein-Taybi syndromeRubinstein-Taybi syndrome caused by mutation in EP300Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyRubinstein-Taybi syndrome type 2RSTS2Rubinstein-Taybi syndrome 2
Definition
Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene.
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