congenital myasthenic syndrome 14
Findings
No curated finding names congenital myasthenic syndrome 14 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014543), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Slowly progressive · Childhood onset
HPO, annotations 2026-09-02
Features
20 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
- 3 of 3 reported patients
- Fatigable weaknessHPOHP:0003473
- 5 of 5 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 2 of 2 reported patients
- Limb-girdle muscle weaknessHPOHP:0003325
- 5 of 5 reported patients
- Motor delayHPOHP:0001270
- 5 of 5 reported patients
- Weakness of facial musculatureHPOHP:0030319
- 4 of 5 reported patients
- Distal joint hypermobility
Show the remaining 8
- Muscle fiber tubular inclusionsHPOHP:0100301
- 1 of 2 reported patients
- Type 1 muscle fiber predominanceHPOHP:0003803
- 1 of 2 reported patients
- Mildly elevated creatine kinaseHPOHP:0008180
- 2 of 5 reported patients
- Gowers signHPOHP:0003391
- 1 of 5 reported patients
- HyperlordosisHPOHP:0003307
- 1 of 5 reported patients
- Scapular wingingHPOHP:0003691
- 1 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.
- ALG2HGNC:23159
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
7 names
Resolves to: congenital myasthenic syndrome 14
- Also called
- ALG2 congenital myasthenic syndromes with glycosylation defectCMS14CMSTA3congenital myasthenic syndrome type 14congenital myasthenic syndromes with glycosylation defect caused by mutation in ALG2myasthenic syndrome, congenital, 14, with tubular aggregatesmyasthenic syndrome, congenital, type 14