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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
neurogenic scapuloperoneal syndrome Kaeser type
Summary
- Synonym
-
- Kaeser syndrome
- Stark-Kaeser syndrome
- scapuloperoneal syndrome type Kaeser
- scapuloperoneal syndrome, neurogenic, Kaeser type
- Definition
- A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35.
- Super Class
- autosomal dominant disease myopathy
External Links
- Disease Ontology
- DOID:0111551
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
