OBO ID: DOID:0110658
Term Name: congenital myasthenic syndrome 15 Search Ontology:
Synonyms:
  • CMS15
  • congenital myasthenic syndrome 15 without tubular aggregates
Definition: A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21. https://www.ncbi.nlm.nih.gov/pubmed/23404334
References:
Ontology: Human Disease   (DOID:0110658)
OTHER congenital myasthenic syndrome 15 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ALG14 ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None