neurogenic scapuloperoneal syndrome Kaeser type (DOID:0111551)
Alliance: disease page
Synonyms: Kaeser syndrome; scapuloperoneal syndrome type Kaeser; scapuloperoneal syndrome, neurogenic, Kaeser type; Stark-Kaeser syndrome
Alt IDs: OMIM:181400, MESH:C566695, ORDO:85146, UMLS_CUI:C1867005
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.