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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:0000651 | Diplopia |
| HP:0000768 | Pectus carinatum |
| HP:0000961 | Cyanosis |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001265 | Hyporeflexia |
| HP:0001270 | Motor delay |
| HP:0001283 | Bulbar palsy |
