Search Ontology:
Human Disease

congenital myasthenic syndrome 6

Term ID
DOID:0110671
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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models