congenital myasthenic syndrome 20
Information
- Disease name
- congenital myasthenic syndrome 20
- Disease ID
- DOID:0110661
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27569547]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:3635
- Cross Reference ID (Disease Ontology)
- MIM:617143
- Exact Synonym (Disease Ontology)
- CMS20
- Exact Synonym (Disease Ontology)
- congenital myasthenic syndrome 20 presynaptic