Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

MONDO:0013364

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

Also known as: EP300 Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome caused by mutation in EP300, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome type 2, RSTS2, Rubinstein-Taybi syndrome 2

1 clinical trial for this condition and its sub-types, 0 tagged with Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 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 EP300 haploinsufficiency (0)

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