congenital myasthenic syndrome 16
Findings
No curated finding names congenital myasthenic syndrome 16 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 SCN4A gene.
Definition from the Mondo Disease Ontology (MONDO:0013620), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset
HPO, annotations 2026-09-02
Features
13 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.
- ApneaHPOHP:0002104
- 1 of 1 reported patient
- Bilateral ptosisHPOHP:0001488
- 1 of 1 reported patient
- Easy fatigabilityHPOHP:0003388
- 1 of 1 reported patient
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulationHPOHP:0003403
- 1 of 1 reported patient
- External ophthalmoplegiaHPOHP:0000544
- 1 of 1 reported patient
- Fatigable weaknessHPOHP:0003473
- 1 of 1 reported patient
- Gait disturbanceHPO
Show the remaining 1
- Anti-neuromuscular Junction acetylcholine receptor antibody positivityHPOHP:0030208
- 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.
- SCN4AHGNC:10591
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
5 names
Resolves to: congenital myasthenic syndrome 16
- Also called
- CMS16congenital myasthenic syndrome caused by mutation in SCN4Acongenital myasthenic syndrome type 16myasthenic syndrome, congenital, type 16SCN4A congenital myasthenic syndrome