Human genes for congenital myasthenic syndrome 18
Congenital myasthenic syndrome 18 [DOID:0110683]
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.
Synonyms: congenital myasthenic syndrome 18, DOID:0110683, CMS18