| Metadata | |
|---|---|
| ID | DOID:0111551 |
| Name | neurogenic scapuloperoneal syndrome 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. https://www.ncbi.nlm.nih.gov/pubmed/17439987 |
| Xrefs |
SNOMEDCT_US_2023_03_01:1208615009 |
| Subsets |
DO_rare_slim |
| Synonyms |
Kaeser syndrome [EXACT] scapuloperoneal syndrome type Kaeser [EXACT] scapuloperoneal syndrome, neurogenic, Kaeser type [EXACT] Stark-Kaeser syndrome [EXACT] |
| Parent Relationships |
is_a myopathy |