| Metadata | |
|---|---|
| ID | DOID:0110658 |
| Name | congenital myasthenic syndrome 15 |
| 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 |
| Xrefs | |
| Synonyms |
CMS15 [EXACT] congenital myasthenic syndrome 15 without tubular aggregates [EXACT] |
| Parent Relationships |