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congenital myasthenic syndrome 20
Summary
- Synonym
-
- CMS20
- congenital myasthenic syndrome 20 presynaptic
- Definition
- A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12.
- Super Class
- autosomal recessive disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110661
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000508 | Ptosis |
| HP:0001612 | Weak cry |
| HP:0003306 | Spinal rigidity |
| HP:0001270 | Motor delay |
| HP:0002392 | EEG with polyspike wave complexes |
| HP:0001250 | Seizure |
| HP:0002804 | Arthrogryposis multiplex congenita |
| HP:0001382 | Joint hypermobility |
| HP:0003458 | EMG: myopathic abnormalities |
| HP:0002020 | Gastroesophageal reflux |
