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Diseases List


Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. These signs and symptoms vary among affected individuals.

Associated Genes

Gene Name Chromosome number
CREBBP 16
EP300 22