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 19
Summary
- Synonym
-
- CMS19
- Definition
- A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22.
- Super Class
- autosomal recessive disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110673
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003402 | Decreased miniature endplate potentials |
| HP:0002194 | Delayed gross motor development |
| HP:0003722 | Neck flexor weakness |
| HP:0003803 | Type 1 muscle fiber predominance |
| HP:0005659 | Thoracic kyphoscoliosis |
| HP:0009005 | Weakness of the intrinsic hand muscles |
| HP:0009077 | Weakness of long finger extensor muscles |
| HP:0010628 | Facial palsy |
| HP:0012515 | Hip flexor weakness |
| HP:0012764 | Orthopnea |
