Term Name: | congenital myasthenic syndrome 15 |
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Synonyms: | CMS15, congenital myasthenic syndrome 15 without tubular aggregates |
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. |
Ontology: | Human Disease [DOID:0110658] ( DOID:0110658 ) |