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Metadata
ID	DOID:0110674
Name	congenital myasthenic syndrome 17
Definition	A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11. https://www.ncbi.nlm.nih.gov/pubmed/24234652
Xrefs	MIM:616304
Synonyms	CMS17 [EXACT]
Parent Relationships	is_a congenital myasthenic syndrome is_a autosomal recessive disease