Rubinstein-Taybi syndrome due to CREBBP mutations

MONDO:0008393

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

Also known as: CREBBP Rubinstein-Taybi syndrome, RSTS1, Rubinstein-Taybi syndrome 1, Rubinstein-Taybi syndrome caused by mutation in CREBBP, Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome type 1, RSTS, Rubinstein syndrome

1 clinical trial for this condition and its sub-types, 0 tagged with Rubinstein-Taybi syndrome due to CREBBP mutations itself.

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↑ Autosomal dominant syndromic intellectual disability (15) ↑ Rubinstein-Taybi syndrome (3)

Including sub-types (1) Tagged with Rubinstein-Taybi syndrome due to CREBBP mutations (0)

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