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Human Disease
congenital myasthenic syndrome 20
- Term ID
- DOID:0110661
- Synonyms
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- 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. https://www.ncbi.nlm.nih.gov/pubmed/27569547
- References
- Ontology
- Human Disease ( DOID:0110661 )
- is a type of
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