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congenital myasthenic syndrome 9
Summary
- Synonym
-
- CMS9
- congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency
- Definition
- A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.
- Super Class
- autosomal recessive disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110670
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000961 | Cyanosis |
| HP:0002792 | Reduced vital capacity |
| HP:0000218 | High palate |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0001446 | Abnormality of the musculature of the upper limbs |
| HP:0003443 | Decreased size of nerve terminals |
| HP:0000651 | Diplopia |
| HP:0002650 | Scoliosis |
| HP:0003484 | Upper limb muscle weakness |
| HP:0001315 | Reduced tendon reflexes |
