Search Ontology:
Human Disease
congenital myasthenic syndrome 15
- Term ID
- DOID:0110658
- Synonyms
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- 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 )
- is a type of
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Genes Involved
Zebrafish Models