congenital myasthenic syndrome 7 (DOID:0110659)
Alliance: disease page
Synonyms: CMS7; congenital myasthenic syndrome 7 presynaptic
Alt IDs: OMIM:616040
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.