congenital myasthenic syndrome 8
Findings
No curated finding names congenital myasthenic syndrome 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene.
Definition from the Mondo Disease Ontology (MONDO:0014052), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
5 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.
- Difficulty runningHPOHP:0009046
- 2 of 2 reported patients
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulationHPOHP:0003403
- 2 of 2 reported patients
- PtosisHPOHP:0000508
- 2 of 2 reported patients
- Weakness of facial musculatureHPOHP:0030319
- 2 of 2 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 1 of 2 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.
- AGRNHGNC:329
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
6 names
Resolves to: congenital myasthenic syndrome 8
- Also called
- AGRN congenital myasthenic syndromeCMS8congenital myasthenic syndrome caused by mutation in AGRNcongenital myasthenic syndrome type 8myasthenic syndrome, congenital, 8, with pre- and postsynaptic defectsmyasthenic syndrome, congenital, type 8