congenital myasthenic syndrome 21 (DOID:0110672)
Alliance: disease page
Synonyms: CMS21; congenital myasthenic syndrome 21, presynaptic
Alt IDs: OMIM:617239
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11.