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 7
Summary
- Synonym
-
- CMS7
- congenital myasthenic syndrome 7 presynaptic
- Definition
- A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32.
- Super Class
- autosomal dominant disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110659
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003473 | Fatigable weakness |
| HP:0001618 | Dysphonia |
| HP:0003324 | Generalized muscle weakness |
| HP:0001283 | Bulbar palsy |
| HP:0002421 | Poor head control |
| HP:0001251 | Ataxia |
| HP:0002033 | Poor suck |
| HP:0002870 | Obstructive sleep apnea |
| HP:0001558 | Decreased fetal movement |
| HP:0009053 | Distal lower limb muscle weakness |
