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Human Disease

congenital myasthenic syndrome 7

Term ID
DOID:0110659
Synonyms
  • 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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models