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 )

Relationships
is a type of: autosomal recessive disease congenital myasthenic syndrome