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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:0011968 | Feeding difficulties |
| HP:0012801 | Narrow jaw |
| HP:0100285 | EMG: impaired neuromuscular transmission |
| HP:0100295 | Muscle fiber atrophy |
| HP:0002878 | Respiratory failure |
| HP:0012764 | Orthopnea |
| HP:0001324 | Muscle weakness |
| HP:0003547 | Shoulder girdle muscle weakness |
| HP:0000597 | Ophthalmoparesis |
| HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
