DISEASES

Disease-gene associations mined from literature

Human genes for Coffin-Siris syndrome 3

Coffin-Siris syndrome 3 [DOID:0070045]

A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of SMARCB1 on chromosome 22q11.23.

Synonyms:  Coffin-Siris syndrome 3,  CoffinSiris syndrome 3,  DOID:0070045,  CSS3,  MRD15 ...