OBO ID: DOID:0110683
Term Name: congenital myasthenic syndrome 18 Search Ontology:
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)
OTHER congenital myasthenic syndrome 18 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SNAP25 ?Myasthenic syndrome, congenital, 18 616330
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None