Uruguay faciocardiomusculoskeletal syndrome (DOID:0112148)
Alliance: disease page
Synonyms: FCMSU
Alt IDs: OMIM:300280, MESH:C564544
Definition: A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in the FHL1 gene on chromosome Xq26.3.