congenital myasthenic syndrome 15 (DOID:0110658)
Alliance: disease page
Synonyms: CMS15; congenital myasthenic syndrome 15 without tubular aggregates
Alt IDs: OMIM:616227
Definition: A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21.