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Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

rare

Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene.

Identifiers
MONDO:0013364 OMIM:613684Orphanet:353284
Causal genes
EP300
Part of
Rubinstein-Taybi syndromeAutosomal dominant syndromic intellectual disability
Also known as
EP300 Rubinstein-Taybi syndrome · RSTS2 · Rubinstein-Taybi syndrome 2 · Rubinstein-Taybi syndrome caused by mutation in EP300 · Rubinstein-Taybi syndrome type 2

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