Term Name: | congenital myasthenic syndrome 7 |
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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. |
Ontology: | Human Disease [DOID:0110659] ( DOID:0110659 ) |