Term Name: | Uruguay faciocardiomusculoskeletal syndrome |
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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 ) |