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OBO ID: DOID:0110657
Term Name: congenital myasthenic syndrome 8 Search Ontology:
Synonyms:
  • CMS8
  • congenital myasthenic syndrome 8 with pre- and postsynaptic defects
  • congenital myasthenic syndrome due to agrin deficiency
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p. (2)
References:
Ontology: Human Disease   (DOID:0110657)
OTHER congenital myasthenic syndrome 8 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AGRN Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects 615120
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None