World Of Taxonomy
C153291Level 7

Rubinstein-Taybi Syndrome Type 2

**Semantic type:** Disease or Syndrome

**Definition:** Rubinstein-Taybi syndrome caused by a mutation in the EP300 gene on chromosome 22q13, which presents with a mild phenotype associated with less severe facial dysmorphism and better cognitive function.

**Synonyms:** - RSTS2

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