Term Name:	congenital myasthenic syndrome 8
Synonyms:	CMS8, congenital myasthenic syndrome 8 with pre- and postsynaptic defects, congenital myasthenic syndrome due to agrin deficiency
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.
Ontology:	Human Disease [DOID:0110657]   ( DOID:0110657 )