congenital myasthenic syndrome 15
Findings
No curated finding names congenital myasthenic syndrome 15 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 ALG14 gene.
Definition from the Mondo Disease Ontology (MONDO:0014542), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Slowly progressive
HPO, annotations 2026-09-02
Features
8 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.
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulationHPOHP:0003403
- 5 of 5 reported patients
- Fatigable weaknessHPOHP:0003473
- 2 of 2 reported patients
- Increased jitter at single fiber EMGHPOHP:0030205
- 4 of 4 reported patients
- Multiple joint contracturesHPOHP:0002828
- 6 of 7 reported patients
- PtosisHPOHP:0000508
- 1 of 7 reported patients
- Anti-neuromuscular Junction acetylcholine receptor antibody positivityHPOHP:0030208
- 0 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.
- ALG14HGNC:28287
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
6 names
Resolves to: congenital myasthenic syndrome 15
- Also called
- ALG14 congenital myasthenic syndromeCMS15congenital myasthenic syndrome caused by mutation in ALG14congenital myasthenic syndrome type 15myasthenic syndrome, congenital, 15, without tubular aggregatesmyasthenic syndrome, congenital, type 15