OBO ID: DOID:0110671
Term Name: congenital myasthenic syndrome 6 Search Ontology:
Synonyms:
  • CMS Ia2
  • CMS1A2
  • CMS6
  • CMSEA
  • congenital myasthenic syndrome 6, presynaptic
  • congenital myasthenic syndrome type Ia2
  • congenital presynaptic myasthenic syndrome associated with episodic apnea
  • familial infantile myasthenia
  • familial infantile myasthenia gravis 2
  • FIM
  • FIMG2
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q. (3)
References:
Ontology: Human Disease   (DOID:0110671)
OTHER congenital myasthenic syndrome 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CHAT Myasthenic syndrome, congenital, 6, presynaptic 254210
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None