congenital myasthenic syndrome 18

Term ID

DOID:0110683

Synonyms

• CMS18

Definition

A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11. https://www.ncbi.nlm.nih.gov/pubmed/25381298

References

• OMIM:616330

Ontology

Human Disease   ( DOID:0110683 )