congenital myasthenic syndrome 3B
Findings
No curated finding names congenital myasthenic syndrome 3B 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 recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.
Definition from the Mondo Disease Ontology (MONDO:0014584), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
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.
- Easy fatigabilityHPOHP:0003388
- 1 of 1 reported patient
- Fatigable weaknessHPOHP:0003473
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient · Neonatal onset
- OphthalmoplegiaHPOHP:0000602
- 1 of 1 reported patient
- PtosisHPOHP:0000508
- 1 of 1 reported patient
- Respiratory insufficiencyHPOHP:0002093
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 recessive · 2021
Where it sits
Other names
2 names
Resolves to: congenital myasthenic syndrome 3B
- Also called
- CMS3Bcongenital myasthenic syndrome type 3B