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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Where it sits in the disease tree

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Part of

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

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

Completed 1

Kids test new bionic foot design

Knowledge-focused Completed

This study tested a new prosthetic foot for children with leg amputations or birth defects. Thirteen kids walked with the device and gave feedback on stiffness and performance. The goal was to gather ideas to improve future foot designs.

Sponsor: Össur Iceland ehf • Aim: Knowledge-focused

Last updated Jun 27, 2026 14:00 UTC

Rubinstein-Taybi syndrome due to CREBBP mutations

Where it sits in the disease tree

Kids test new bionic foot design