Search Ontology:
Human Disease

congenital myasthenic syndrome 18

Term ID
DOID:0110683
Synonyms
  • CMS18
Definition
A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11. https://www.ncbi.nlm.nih.gov/pubmed/25381298
References
Ontology
Human Disease   ( DOID:0110683 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models