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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:0000961 | Cyanosis |
| HP:0002515 | Waddling gait |
| HP:0001284 | Areflexia |
| HP:0003325 | Limb-girdle muscle weakness |
| HP:0001761 | Pes cavus |
| HP:0003693 | Distal amyotrophy |
| HP:0001561 | Polyhydramnios |
| HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress |
| HP:0001252 | Hypotonia |
| HP:0002205 | Recurrent respiratory infections |
