| Metadata | |
|---|---|
| ID | DOID:0110667 |
| Name | congenital myasthenic syndrome 5 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/25792100 |
| Xrefs | |
| Synonyms |
CMS Ic [EXACT] CMS5 [EXACT] congenital myasthenic syndrome Engel type [EXACT] congenital myasthenic syndrome type Ic [EXACT] EAD [EXACT] end plate acetylcholinesterase deficiency [EXACT] Engel congenital myasthenic syndrome [EXACT] |
| Parent Relationships |