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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:0001612 | Weak cry |
| HP:0003306 | Spinal rigidity |
| HP:0001270 | Motor delay |
| HP:0002392 | EEG with polyspike wave complexes |
| HP:0001250 | Seizure |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002804 | Arthrogryposis multiplex congenita |
| HP:0001382 | Joint hypermobility |
| HP:0008443 | Neuropathic spinal arthropathy |
| HP:0100295 | Muscle fiber atrophy |
