DISEASES

Disease-gene associations mined from literature

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