myasthenic syndrome, congenital, 23, presynaptic
MONDO:0032596Mondo
Findings
No curated finding names myasthenic syndrome, congenital, 23, presynaptic yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
11 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
- 3 of 3 reported patients
- Fatigable weaknessHPOHP:0003473
- 3 of 3 reported patients
- Increased jitter at single fiber EMGHPOHP:0030205
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 3 reported patients
- PtosisHPOHP:0000508
- 2 of 3 reported patients
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 3 reported patients
- Bulbar palsyHPOHP:0001283
- 1 of 3 reported patients
- Calf muscle hypertrophyHPOHP:0008981
- 1 of 3 reported patients
- HyporeflexiaHPOHP:0001265
- 1 of 3 reported patients
- Pes cavusHPOHP:0001761
- 1 of 3 reported patients
- Poor suckHPOHP:0002033
- 1 of 3 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.
- SLC25A1HGNC:10979
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025