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MIRAGE
congenital myasthenic syndrome 8
Summary
- Synonym
-
- CMS8
- congenital myasthenic syndrome 8 with pre- and postsynaptic defects
- congenital myasthenic syndrome due to agrin deficiency
- Definition
- A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p.
- Super Class
- autosomal recessive disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110657
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000768 | Pectus carinatum |
| 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 |
