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Human Disease
congenital myasthenic syndrome 7
- Term ID
- DOID:0110659
- Synonyms
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- CMS7
- congenital myasthenic syndrome 7 presynaptic
- Definition
- A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32. (2)
- References
- Ontology
- Human Disease ( DOID:0110659 )
- is a type of
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