OBO ID: DOID:0111551
Term Name: neurogenic scapuloperoneal syndrome Kaeser type Search Ontology:
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 neurogenic scapuloperoneal syndrome Kaeser type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DES Scapuloperoneal syndrome, neurogenic, Kaeser type 181400
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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