| Metadata | |
|---|---|
| ID | DOID:0110682 |
| Name | congenital myasthenic syndrome 16 |
| Definition | A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23. https://www.ncbi.nlm.nih.gov/pubmed/12766226 |
| Xrefs | |
| Synonyms |
CMS16 [EXACT] congenital myasthenic syndrome acetazolamide-responsive [EXACT] |
| Parent Relationships |