Term Name: neurogenic scapuloperoneal syndrome Kaeser type
Synonyms: Kaeser syndrome, scapuloperoneal syndrome type Kaeser, scapuloperoneal syndrome, neurogenic, Kaeser type, Stark-Kaeser syndrome
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.
Ontology: Human Disease [DOID:0111551]   ( DOID:0111551 )

Relationships
is a type of: autosomal dominant disease myopathy