congenital myasthenic syndrome 6
Findings
No curated finding names congenital myasthenic syndrome 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner.
Definition from the Mondo Disease Ontology (MONDO:0009689), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bulbar palsyHPOHP:0001283
- 5 of 5 reported patients
- Decreased miniature endplate potentialsHPOHP:0003402
- 2 of 2 reported patients
- Fatigable weaknessHPOHP:0003473
- 5 of 5 reported patients
- Anti-neuromuscular Junction acetylcholine receptor antibody positivityHPOHP:0030208
- 0 of 5 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CHATHGNC:1912
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
Where it sits
Other names
7 names
Resolves to: congenital myasthenic syndrome 6
- Also called
- CHAT congenital myasthenic syndromeCMS6CMSEAcongenital myasthenic syndrome caused by mutation in CHATcongenital myasthenic syndrome type 6FIMpresynaptic congenital myasthenic syndrome 6