DISEASES

Disease-gene associations mined from literature

Human genes for Coffin-Siris syndrome

Coffin-Siris syndrome [DOID:1925]

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:  Coffin-Siris syndrome,  CoffinSiris syndrome,  Coffin-Siris disease,  Coffin-Siris disorder,  DOID:1925 ...

Linkouts:  OMIM