Mondo Description Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene.

Uniprot Description A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness.