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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:0002421 | Poor head control |
| HP:0001283 | Bulbar palsy |
| HP:0003324 | Generalized muscle weakness |
| HP:0001618 | Dysphonia |
| HP:0003473 | Fatigable weakness |
| HP:0001558 | Decreased fetal movement |
| HP:0002870 | Obstructive sleep apnea |
| HP:0001251 | Ataxia |
| HP:0002033 | Poor suck |
| HP:0000651 | Diplopia |
