Disease-gene associations mined from literature

Human genes for Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome [DOID:1933]

An autosomal dominant disease characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes; additionally it can include eye abnormalities, heart and kidney defects, dental problems and obesity.

Synonyms:  Rubinstein-Taybi syndrome,  DOID:1933,  RubinsteinTaybi syndrome,  Rubinstein-Taybi disease,  Rubinstein-Taybi disorder ...

Linkouts:  OMIM #1 #2