Uruguay faciocardiomusculoskeletal syndrome

Term ID

DOID:0112148

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. (2)

References

• MESH:C564544
• OMIM:300280

Ontology

Human Disease   ( DOID:0112148 )