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Uruguay faciocardiomusculoskeletal syndrome
Summary
- Synonym
-
- 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.
- Super Class
- syndrome
External Links
- Disease Ontology
- DOID:0112148
- Mondo Disease Ontology
- MeSH
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13642 | Four and a half LIM domains protein 1 |
