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.
MONDO:0019188
Rubinstein-Taybi syndrome
is_a
MONDO:0100601
autosomal dominant syndromic intellectual disability
is_a
EP300 Rubinstein-Taybi syndrome
exact
RSTS2
related
Rubinstein-Taybi syndrome 2
related
Rubinstein-Taybi syndrome caused by mutation in EP300
exact
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
exact
Rubinstein-Taybi syndrome type 2
exact