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congenital myasthenic syndrome 18
Summary
- Synonym
-
- CMS18
- 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.
- Super Class
- autosomal dominant disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110683
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P60880 | Synaptosomal-associated protein 25 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011968 | Feeding difficulties |
| HP:0012801 | Narrow jaw |
| HP:0100285 | EMG: impaired neuromuscular transmission |
| HP:0100295 | Muscle fiber atrophy |
