| Metadata | |
|---|---|
| ID | DOID:0110683 |
| Name | congenital myasthenic syndrome 18 |
| Definition | A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11. https://www.ncbi.nlm.nih.gov/pubmed/25381298 |
| Xrefs | |
| Synonyms |
CMS18 [EXACT] DEE117 [EXACT] developmental and epileptic encephalopathy 117 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance disease has basis in some Abnormality of prenatal development or birth has symptom some muscle weakness |