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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
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002194 | Delayed gross motor development |
| HP:0002329 | Drowsiness |
| HP:0002650 | Scoliosis |
| HP:0002792 | Reduced vital capacity |
| HP:0002875 | Exertional dyspnea |
| HP:0002878 | Respiratory failure |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003402 | Decreased miniature endplate potentials |
| HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
| HP:0003443 | Decreased size of nerve terminals |
