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facioscapulohumeral muscular dystrophy 2
Summary
- Synonym
-
- FSHD2
- facioscapulohumeral muscular dystrophy 1B
- facioscapulohumeral muscular dystrophy type 2
- Definition
- A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in the SMCHDI gene on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression.
- Super Class
- digenic disease facioscapulohumeral muscular dystrophy
External Links
- Disease Ontology
- DOID:0111193
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| A6NHR9 | Structural maintenance of chromosomes flexible hinge domain-containing protein 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0010984 | Digenic inheritance |
| HP:0003691 | Scapular winging |
| HP:0009027 | Foot dorsiflexor weakness |
| HP:0000365 | Hearing impairment |
| HP:0008970 | Scapulohumeral muscular dystrophy |
| HP:0003581 | Adult onset |
| HP:0010628 | Facial palsy |
| HP:0003749 | Pelvic girdle muscle weakness |
