congenital myasthenic syndrome 20 (DOID:0110661)
Alliance: disease page
Synonyms: CMS20; congenital myasthenic syndrome 20 presynaptic
Alt IDs: OMIM:617143
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.