Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital myasthenic syndrome 16
Summary
- Synonym
-
- CMS16
- congenital myasthenic syndrome acetazolamide-responsive
- Definition
- A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23.
- Super Class
- autosomal recessive disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110682
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002792 | Reduced vital capacity |
| HP:0000218 | High palate |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0001446 | Abnormality of the musculature of the upper limbs |
| HP:0003443 | Decreased size of nerve terminals |
| HP:0000651 | Diplopia |
| HP:0002650 | Scoliosis |
| HP:0003484 | Upper limb muscle weakness |
| HP:0001315 | Reduced tendon reflexes |
| HP:0002875 | Exertional dyspnea |
