Term Name:	congenital myasthenic syndrome 20
Synonyms:	CMS20, congenital myasthenic syndrome 20 presynaptic
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.
Ontology:	Human Disease [DOID:0110661]   ( DOID:0110661 )