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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:0002020 | Gastroesophageal reflux |
| HP:0002033 | Poor suck |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002355 | Difficulty walking |
| HP:0002392 | EEG with polyspike wave complexes |
| HP:0002421 | Poor head control |
| HP:0002515 | Waddling gait |
| HP:0002751 | Kyphoscoliosis |
| HP:0002804 | Arthrogryposis multiplex congenita |
| HP:0002870 | Obstructive sleep apnea |
