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Metadata
ID	DOID:0110661
Name	congenital myasthenic syndrome 20
Definition	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12. https://www.ncbi.nlm.nih.gov/pubmed/27569547
Xrefs	OMIM:617143
Synonyms	CMS20 [EXACT] congenital myasthenic syndrome 20 presynaptic [EXACT]
Parent Relationships	is_a congenital myasthenic syndrome is_a autosomal recessive disease