Term Name: congenital myasthenic syndrome 7
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 )

Relationships
is a type of: autosomal dominant disease congenital myasthenic syndrome