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congenital myasthenic syndrome 20
Summary
- Synonym
-
- CMS20
- congenital myasthenic syndrome 20 presynaptic
- Definition
- A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12.
- Super Class
- autosomal recessive disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110661
- 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 |
