Term Name:	congenital myasthenic syndrome 5
Synonyms:	CMS Ic, CMS5, congenital myasthenic syndrome Engel type, congenital myasthenic syndrome type Ic, EAD, end plate acetylcholinesterase deficiency, Engel congenital myasthenic syndrome
Definition:	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25.
Ontology:	Human Disease [DOID:0110667]   (DOID:0110667)