congenital myasthenic syndrome 3A
Findings
No curated finding names congenital myasthenic syndrome 3A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37.
Definition from the Mondo Disease Ontology (MONDO:0014583), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Progressive
HPO, annotations 2026-09-02
Features
12 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.
- Decreased miniature endplate potentialsHPOHP:0003402
- 1 of 1 reported patient
- Delayed ability to sitHPOHP:0025336
- 1 of 1 reported patient
- DysphagiaHPOHP:0002015
- 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
- Generalized muscle weaknessHPOHP:0003324
- 1 of 1 reported patient
- HypotoniaHPO
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.
- CHRNDHGNC:1965
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: congenital myasthenic syndrome 3A
- Also called
- CMS3Acongenital myasthenic syndrome type 3A