OBO ID: DOID:0110679
Term Name: congenital myasthenic syndrome 4C Search Ontology:
Synonyms:
  • CMS Id
  • CMS1D
  • CMS4C
  • congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency
  • congenital myasthenic syndrome type Id
  • FIM1
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. (2)
References:
Ontology: Human Disease   (DOID:0110679)
OTHER congenital myasthenic syndrome 4C PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CHRNE Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency 608931
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None