Search Ontology:
Human Disease

neurogenic scapuloperoneal syndrome Kaeser type

Term ID
DOID:0111551
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. https://www.ncbi.nlm.nih.gov/pubmed/17439987
References
Ontology
Human Disease   ( DOID:0111551 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models