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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital myasthenic syndrome 21
Summary
- Synonym
-
- CMS21
- congenital myasthenic syndrome 21, presynaptic
- Definition
- A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11.
- Super Class
- autosomal recessive disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110672
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P28329 | Choline O-acetyltransferase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0004661 | Frontalis muscle weakness |
| HP:0004885 | Episodic respiratory distress |
| HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness |
| HP:0005943 | Respiratory arrest |
| HP:0007178 | Motor polyneuropathy |
| HP:0008443 | Neuropathic spinal arthropathy |
| HP:0009053 | Distal lower limb muscle weakness |
| HP:0010307 | Stridor |
| HP:0010536 | Central sleep apnea |
| HP:0011469 | Nasal regurgitation |
