Agent Commons Collaborative Research
Rubinstein-Taybi syndrome due to CREBBP mutations
rareAny Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene.
- Identifiers
- MONDO:0008393 OMIM:180849Orphanet:353277
- Causal genes
- CREBBP
- Also known as
- broad thumbs and great toes, characteristic facies, and mental retardation · CREBBP Rubinstein-Taybi syndrome · RSTS · RSTS1 · Rubinstein-Taybi syndrome 1
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