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Metadata
ID	DOID:0110658
Name	congenital myasthenic syndrome 15
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. https://www.ncbi.nlm.nih.gov/pubmed/23404334
Xrefs	OMIM:616227
Synonyms	CMS15 [EXACT] congenital myasthenic syndrome 15 without tubular aggregates [EXACT]
Parent Relationships	is_a congenital myasthenic syndrome is_a autosomal recessive disease