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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:0001284 | Areflexia |
| HP:0001374 | Congenital hip dislocation |
| HP:0001382 | Joint hypermobility |
| HP:0001558 | Decreased fetal movement |
| HP:0001561 | Polyhydramnios |
| HP:0001611 | Hypernasal speech |
| HP:0001612 | Weak cry |
| HP:0001618 | Dysphonia |
| HP:0001761 | Pes cavus |
| HP:0002015 | Dysphagia |
