OBO ID: DOID:0110669
Term Name: congenital myasthenic syndrome 14 Search Ontology:
Synonyms:
  • CMS14
  • CMSTA3
  • congenital myasthenic syndrome 14, with tubular aggregates
  • congenital myasthenic syndrome with tubular aggregates 3
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22. (2)
References:
Ontology: Human Disease   (DOID:0110669)
OTHER congenital myasthenic syndrome 14 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ALG2 Myasthenic syndrome, congenital, 14, with tubular aggregates 616228
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None