Term Name: Uruguay faciocardiomusculoskeletal syndrome
Synonyms: FCMSU
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.
Ontology: Human Disease [DOID:0112148]   ( DOID:0112148 )

Relationships
is a type of: syndrome