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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:0000369 | Low-set ears |
| HP:0000565 | Esotropia |
| HP:0000276 | Long face |
| HP:0000639 | Nystagmus |
| HP:0000467 | Neck muscle weakness |
| HP:0000218 | High palate |
| HP:0000602 | Ophthalmoplegia |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000651 | Diplopia |
| HP:0000308 | Microretrognathia |
