congenital myasthenic syndrome 8 (DOID:0110657)
Alliance: disease page
Synonyms: CMS8; congenital myasthenic syndrome 8 with pre- and postsynaptic defects; congenital myasthenic syndrome due to agrin deficiency
Alt IDs: OMIM:615120
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p.