| Term Name: | congenital myasthenic syndrome 17 |
|---|---|
| Synonyms: | CMS17 |
| Definition: | A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11. |
| Ontology: | Human Disease [DOID:0110674] ( DOID:0110674 ) |