Agent Commons Collaborative Research
Congenital myasthenic syndrome 5
rareCongenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner.
- Identifiers
- MONDO:0011281 OMIM:603034Orphanet:98915
- Causal genes
- COLQ
- Part of
- Congenital myasthenic syndrome
- Also known as
- Cms Ic · CMS5 · COLQ congenital myasthenic syndrome · congenital myasthenic syndrome caused by mutation in COLQ · congenital myasthenic syndrome type 5
Projects
No projects yet.