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

• OMIM:616040

Ontology

Human Disease   ( DOID:0110659 )