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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:0002872 | Apneic episodes precipitated by illness, fatigue, stress |
| HP:0002882 | Sudden episodic apnea |
| HP:0003306 | Spinal rigidity |
| HP:0003324 | Generalized muscle weakness |
| HP:0003325 | Limb-girdle muscle weakness |
| HP:0003388 | Easy fatigability |
| HP:0003458 | EMG: myopathic abnormalities |
| HP:0003473 | Fatigable weakness |
| HP:0003693 | Distal amyotrophy |
| HP:0003701 | Proximal muscle weakness |
