Rubinstein-Taybi syndrome due to CREBBP mutations
Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene.
MONDO:0019188
Rubinstein-Taybi syndrome
is_a
MONDO:0100601
autosomal dominant syndromic intellectual disability
is_a
CREBBP Rubinstein-Taybi syndrome
exact
RSTS
related
RSTS1
exact
Rubinstein-Taybi syndrome 1
exact
Rubinstein-Taybi syndrome caused by mutation in CREBBP
exact
Rubinstein-Taybi syndrome due to CREBBP mutations
exact
Rubinstein-Taybi syndrome type 1
exact
broad thumbs and great toes, characteristic facies, and mental retardation
related