OBO ID: DOID:0110682
Term Name: congenital myasthenic syndrome 16 Search Ontology:
Synonyms:
  • CMS16
  • congenital myasthenic syndrome acetazolamide-responsive
Definition: A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23. https://www.ncbi.nlm.nih.gov/pubmed/12766226
References:
Ontology: Human Disease   (DOID:0110682)
OTHER congenital myasthenic syndrome 16 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SCN4A Myasthenic syndrome, congenital, 16 614198
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None