congenital myasthenic syndrome 3C
Findings
No curated finding names congenital myasthenic syndrome 3C 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, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37.
Definition from the Mondo Disease Ontology (MONDO:0014585), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
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.
- DysphagiaHPOHP:0002015
- 1 of 1 reported patient
- Facial palsyHPOHP:0010628
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- High palateHPOHP:0000218
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Increased muscle fatiguabilityHPOHP:0003750
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
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
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
Where it sits
Other names
1 name
Resolves to: congenital myasthenic syndrome 3C
- Also called
- congenital myasthenic syndrome type 3C