congenital myasthenic syndrome 7
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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
congenital myasthenic syndrome 7
- CMS7
- congenital myasthenic syndrome 7 presynaptic
disease_ontology
DOID:0110659